Research Biographies
PROFESSOR ALAN WRIGHT FRCP FRSE FMedSci
Medical and Developmental Genetics
Programme Leader
Contact Details
| E-mail address: | alan.wright@igmm.ed.ac.uk |
| Telephone: | +44 (0)131 332 2471 (extension 2427) |
| Fax: | +44 (0)131 467 8456 |
| Address: | MRC Human Genetics Unit MRC IGMM, University of Edinburgh Western General Hospital, Crewe Road, Edinburgh EH4 2XU |
| Research Programme: | Quantitative Trait Locus (QTL) Identification in Isolate Populations |
Research Areas
Quantitative Trait Locus (QTL) Identification In Isolate Populations
Summary and Purpose
The aims of the study are (i) to genetically map and identify quantitative trait loci (QTL) concerned with common human disorders in isolate populations; (ii) to characterise the genetic architecture of complex traits. We are studying Croatian island populations in collaboration with Croatian scientists and are also closely involved in a parallel study in the Orkney Islands, run by colleagues in the Department of Public Health Sciences, University of Edinburgh. We have measured over 300 different quantitative traits on each participant and performed high density genome-wide scans in each population.
Recent Publication
- Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, ….Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, ....Taylor KD, ….., Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, ….Craig JE, Macgregor S, and Wong TY. 2013. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat. Genet. 45: 155-163. 2013
PubMed Abstract - Chasman DI, Fuchsberger C, Pattaro C, Teumer A, Boger CA, Endlich K, Olden M, ....Rao M, Hu F, Demirkan A, Oostra BA, de AM, Turner ST, Ding J, Andrews JS, ...... Wright AF, Campbell H, Ellinghaus D, Nothlings U, Jacobs G, Biffar R, Ernst F, ...........Hastie N, Vitart V, Helmer C, Wang JJ, Stengel B, Ruggiero D, Bergmann S, Kahonen M, Viikari J, Nikopensius T, Province M, Ketkar S, Colhoun H, Doney A, ...... Probst-Hensch NM, Kronenberg F, Toniolo D, Gudnason V, Shuldiner AR, .....Rudan I, Gyllensten U, Wilson JF, ....., Hayward C, Ridker PM, Parsa A, Bochud M, Heid IM, Kao WH, Fox CS, Kottgen A: Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet 2012.
PubMed Abstract - Boraska V, Jeroncic A, Colonna V, .....Campbell H, Corre T, Erdmann J, Esko .....Warrington NM, Widen E, Willemsen G, Wright AF, Zanke BW, Zgaga L, Boehnke ....Gudnason V, Hayward C, Hengstenberg C, Hudson TJ, Jarvelin MR, Kogevinas M, Loos RJ, Martin NG, Metspalu A, ......Volzke H, Wareham NJ, Wichmann HE, Wilson JF, Rudan I, Xue Y, Zeggini E: Genome-wide meta-analysis of common variant differences between men and women. Hum Mol Genet 21:4805-4815, 2012.
PubMed Abstract - Nagamine Y, Pong-Wong R, Navarro P, Vitart V, Hayward C, Rudan I, Campbell H, Wilson J, Wild S, Hicks AA, Pramstaller PP, Hastie N, Wright AF, Haley CS: Localising Loci underlying Complex Trait Variation Using Regional Genomic Relationship Mapping. PLoS One 7:e46501, 2012.
PubMed Abstract - Huang WC, Wright AF, Roman AJ, Cideciyan AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG: RPGR-associated retinal degeneration in human X-linked RP and a murine model. Invest Ophthalmol Vis Sci 53:5594-5608, 2012.
PubMed Abstract - Franceschini N, van Rooij FJ, Prins BP, Feitosa MF, Karakas M, Eckfeldt JH, ... Baumert J, Boraska V, Broer L, Hayward C, ...........Glazer NL, Kapur K, Kema IP, Lopez LM, Schillert A, ........Hofman A, Hsu FC, Kolcic I, Kraja A, Kubo M, Lackner KJ, Launer L, Loehr LR, Li G, Meisinger C, Takahashi A, Torlak V, Uitterlinden AG, Vitart V, ......., Campbell H, Deary IJ, ........Wilson JF, Witteman JC, Wolffenbuttel BH, Wright AF, Wu Q, Liu Y, Jenny NS, North KE, Felix JF, .... Perry JR, Morris AP: Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
Am J Hum Genet 91:744-753, 2012.
PubMed Abstract - Wei WH, Hemani G, Gyenesei A, Vitart V, Navarro P, Hayward C, Cabrera CP, Huffman JE, Knott SA, Hicks AA, Rudan I, Pramstaller PP, Wild SH, Wilson JF, Campbell H, Hastie ND, Wright AF, Haley CS: Genome-wide analysis of epistasis in body mass index using multiple human populations
Eur J Hum Genet 20:857-862, 2012.
PubMed Abstract - Stanton CM, Chalmers KJ, Wright AF: The chromosome 10q26 susceptibility locus in age-related macular degeneration. Adv Exp Med Biol 723:365-370, 2012.
PubMed Abstract - Shu X, Simpson JR, Hart AW, Zeng Z, Patnaik SR, Gautier P, Murdoch E, Tulloch B, Wright AF: Functional Characterization of the Human RPGR Proximal Promoter
Invest Ophthalmol Vis Sci 53:3951-3958, 2012.
PubMed Abstract - Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, An SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, Talbert ME, Lewis JP, Ferrara A, Lu L, ......Herder C, Isomaa B, Jackson AU, Johnson PR, Jorgensen T, Kao WH, Klopp N, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, ........Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparso T, Strassburger K, .......RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Hu FB, Meigs JB, ......Altshuler D, Boehnke M, McCarthy MI, Soranzo N, ........Cooper MN, Crisponi L, Day IN, de Geus EJ, Delplanque J, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Grundy S, Gwilliam R, Hallmans G, Hammond N, Han X, Hartikainen AL, Hayward C, Heath SC, Hercberg S, Hicks AA, Hillman DR, Hingorani AD, Hui J, Hung J: A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One 7:e29202, 2012
PubMed Abstract - Murabito JM, White CC, Kavousi M, Sun YV, Feitosa MF, Nambi V, Lamina C, Schillert A, ... Holewijn S, Huffman JE, Hwang SJ, Kiechl S, ......Lohman K, Meisinger C, Melzer D, Mohler ER, III, Mudnic I, Mueller T, Navis G, Oberhollenzer F, Olin JW, O'Connell J, O'Donnell CJ, Palmas W, Penninx BW, Petersmann A, Polasek O, Psaty BM, Rantner B, Rice K, Rivadeneira F, Rotter JI, Seldenrijk A, Stadler M, Summerer M, Tanaka T, Tybjaerg-Hansen A, ....Campbell H, Cooke JP, de GJ, Herrington D, Kardia SL, Mitchell BD, Murray ......CM, Volker U, Wright AF, Wichmann HE....., Cupples LA, Kronenberg F: Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.
Circ Cardiovasc Genet 5:100-112, 2012.
PubMed Abstract - Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M, Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA, Borecki IB: Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. PLoS Genet 8:e1002695, 2012.
PubMed Abstract
- Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikainen LP, Fuchsberger C, ... Bidulescu A, Rasmussen-Torvik LJ, Greenwood CM, Ladouceur M, ..........Semple R, Teslovich TM, Allison MA, Redline S, Buxbaum SG, Mohlke KL, Dupuis J, Richards ...........T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jorgensen T, Kao WH, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, .........Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, ...Altshuler D, Boehnke M, McCarthy MI: Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet 8:e1002607, 2012.
PubMed Abstract - Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H, Rybin D, Liu CT, Bielak LF, Prokopenko I, Amin N, Barnes D, Cadby G, Hottenga JJ, Ingelsson E, Jackson AU, Johnson T, Kanoni S, Ladenvall C, Lagou V, Lahti J,.........Hayward C, Heath S, Hercberg S, Hicks AA, Hingorani A, Hofman A, Hui J, Hung J, Jarvelin MR, Jhun .....P, Kumari M, Kuusisto J, Kyvik KO, Laakso M, Lakka T, Lannfelt L, Lathrop GM, ......Uitterlinden AG, Uusitupa M, Vikstrom M, Vitart V, Vohl MC, Voight BF, .....Witteman JC, Wright AF, Yaghootkar H, Zelenika D, Zemunik T, Zgaga L, Wareham NJ, McCarthy MI, Barroso I, Watanabe RM, Florez JC, Dupuis J, Meigs JB, Langenberg C: A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Nat Genet 44:659-669, 2012.
PubMed Abstract - Zgaga L, Theodoratou E, Kyle J, Farrington SM, Agakov F, Tenesa A, Walker M, McNeill G, Wright AF, Rudan I, Dunlop MG, Campbell H: The association of dietary intake of purine-rich vegetables, sugar-sweetened beverages and dairy with plasma urate, in a cross-sectional study.
PLoS One 7:e38123, 2012.
PubMed Abstract - Luciano M, Huffman JE, Arias-Vasquez A, Vinkhuyzen AA, Middeldorp CM, Giegling I, Payton A, Davies G, Zgaga L, Janzing J, Ke X, Galesloot T, Hartmann AM, Ollier W, Tenesa A, Hayward C, Verhagen M, Montgomery GW, Hottenga JJ, Konte B, Starr JM, Vitart V, Vos PE, Madden PA, Willemsen G, Konnerth H, Horan MA, Porteous DJ, Campbell H, Vermeulen SH, Heath AC, Wright A, Polasek O, Kovacevic SB, Hastie ND, Franke B, Boomsma DI, Martin NG, Rujescu D, Wilson JF, Buitelaar J, Pendleton N, Rudan I, Deary IJ: Genome-wide association uncovers shared genetic effects among personality traits and mood states.
Am J Med Genet B Neuropsychiatr Genet 2012.
PubMed Abstract - Perry JR, Voight BF, Yengo L, Amin N, Dupuis J, Ganser M, Grallert H, Navarro P, Li M, Qi L, Steinthorsdottir V, Scott RA, Almgren P, Arking DE, Aulchenko Y, Balkau .......Campbell H, ....... Rudan I, Rybin D, Scott LJ, Sigurdsson G, Sladek R, Thorleifsson G, Thorsteinsdottir U, Tuomilehto J, .......Wright AF, Hu FB, Illig T, Kao L, Meigs JB, Wilson JF, Stefansson K, van DC, .....Wareham NJ, Groop L, Frayling TM, Cauchi S: Stratifying Type 2 Diabetes Cases by BMI Identifies Genetic Risk Variants in LAMA1 and Enrichment for Risk Variants in Lean Compared to Obese Cases. PLoS Genet 8:e1002741, 2012.
PubMed Abstract - Zaboli G, Ameur A, Igl W, Johansson A, Hayward C, Vitart V, Campbell S, Zgaga L, Polasek O, Schmitz G, van DC, Oostra B, Pramstaller P, Hicks A, Meitinger T, Rudan I, Wright A, Wilson JF, Campbell H, Gyllensten U: Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits
Eur J Hum Genet 20:77-83, 2012.
PubMed Abstract
- Boraska V, Day-Williams A, Franklin CS, Elliott KS, Panoutsopoulou K, Tachmazidou I, Albrecht E, Bandinelli S, Beilin LJ, Bochud M, Cadby G, Ernst F, Evans DM, Hayward C, Hicks AA, Huffman J, Huth C, James AL, Klopp N, Kolcic I, Kutalik Z, Lawlor DA, Musk AW, Pehlic M, Pennell CE, Perry JR, Peters A, Polasek O, St PB, Ring SM, Salvi E, Schipf S, Staessen JA, Teumer A, Timpson N, Vitart V, Warrington NM, Yaghootkar H, Zemunik T, Zgaga L, An P, Anttila V, Borecki IB, Holmen J, Ntalla I, Palotie A, Pietilainen KH, Wedenoja J, Winsvold BS, Dedoussis GV, Kaprio J, Province MA, Zwart JA, Burnier M, Campbell H, Cusi D, Smith GD, Frayling TM, Gieger C, Palmer LJ, Pramstaller PP, Rudan I, Volzke H, Wichmann HE, Wright AF, Zeggini E: Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts
PLoS One 7:e31369, 2012.
PubMed Abstract - Verhoeven VJ, Hysi PG, Saw SM, Vitart V, .......Rudan I, Hayward C, Wright AF, Polasek O, Campbell H, Wilson JF, Fleck BW, Nakata I, Yoshimura N, Yamada R, .........Parssinen O, Klein BE, Meitinger T, Spector TD, Oostra BA, Smith AV, De Jong PT, Hofman A, Amin N, Karssen LC, Rivadeneira F, Vingerling JR, Eiriksdottir G, Gudnason V, Doring A, Bettecken T, Uitterlinden AG, Williams C, Zeller T, Castagne R, Oexle K, van Duijn CM, Iyengar SK, Mitchell P, Wang JJ, Hohn R, Pfeiffer N, Bailey-Wilson JE, Stambolian D, Wong TY, Hammond CJ, Klaver CC: Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Hum Genet 2012
PubMed Abstract - Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamidou E, Landau D, Wright AF, Holtzman EJ: Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. Nephrol Dial Transplant 27:1035-1041, 2012.
PubMed Abstract - Stolk L, Perry JR, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Hayward C,........... Heath AC.... Wilson JF, Wolffenbuttel BH, Wright AF, ......, Visser JA, Lunetta KL: Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 44:260-268, 2012.
PubMed Abstract - Zoldos V, Horvat T, Novokmet M, Cuenin C, Muzinic A, Pucic M, Huffman JE, Gornik O, Polasek O, Campbell H, Hayward C, Wright AF, Rudan I, Owen K, McCarthy MI, Herceg Z, Lauc G: Epigenetic silencing of HNF1A associates with changes in the composition of the human plasma N-glycome
Epigenetics 7:164-172, 2012.
PubMed Abstract - Saldova R, Huffman JE, Adamczyk B, Muzinic A, Kattla JJ, Pucic M, Novokmet M, Abrahams JL, Hayward C, Rudan I, Wild SH, Wright AF, Polasek O, Lauc G, Campbell H, Wilson JF, Rudd PM: Association of medication with the human plasma N-glycome
J Proteome Res 11:1821-1831, 2012.
PubMed Abstract - Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP, Liebisch G, Wilson JF, Johansson A, Rudan I, Aulchenko YS, .......... Huffman J, Hastie ND, Uitterlinden A, Franke L, Franklin CS, Vitart V, Nelson CP, Preuss M, Bis JC, O'Donnell CJ, Franceschini N, Witteman JC, Axenovich T, Oostra BA, Meitinger T, Hicks AA, Hayward C, Wright AF, Gyllensten U, Campbell H, Schmitz G: Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations
PLoS Genet 8:e1002490, 2012.
PubMed Abstract - Cipriani V, Matharu BK, Khan JC, Shahid H, Stanton CM, Hayward C, Wright AF, Bunce C, Clayton DG, Moore AT, Yates JR: Genetic variation in complement regulators and susceptibility to age-related macular degeneration
Immunobiology 217:158-161, 2012.
PubMed Abstract - Mitry D, Singh J, Yorston D, Siddiqui MA, Murphy AL, Wright AF, Fleck BW, Campbell H, Charteris DG: The fellow eye in retinal detachment: findings from the Scottish Retinal Detachment Study. Br J Ophthalmol 96:110-113, 2012.PubMed Abstract
- Gakovic M, Shu X, Kasioulis I, Carpanini S, Moraga I, Wright AF: The role of RPGR in cilia formation and actin stability
Hum Mol Genet 20:4840-4850, 2011.PubMed Abstract - Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD, Bochud M, Rice KM, Henneman P, Smith AV, Ehret GB, Amin N, Larson MG, Mooser V, AU, Webster RJ, Zhang F, Peden JF, Schmidt H, Tanaka T, Campbell H, Igl W, Milaneschi Y, Hottenga JJ, Vitart V, et al : Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 43:1005-1011, 2011. PubMed Abstract
Key/Selected Publications
- Rudan, I.; Carothers, A.D.; Polasek, O.; Hayward, C.; Vitart, V.; Biloglav, Z.; Kolcic, I.; Zgaga, L.; Ivankovic, D.; Vorko-Jovic, A.; Wilson, J.F.; Weber, J.L.; Hastie, N.; Wright, A. and Campbell, H. Quantifying the increase in average human heterozygosity due to urbanisation.
Eur J Hum Genet 16(9):1097-102, 2008
PubMed Abstract - Schoemaker, M.J.; Swerdlow, A.J.; Higgins, C.D.; Wright, A.F. and Jacobs, P.A. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. Lancet Oncol 9(3):239-246, 2008
PubMed Abstract - Vitart, V.; Rudan, I.; Hayward, C.; Gray, N.K.; Floyd, J.; Palmer, C.N.; Knott, S.A.; Kolcic, I.; Polasek, O.; Graessler, J.; Wilson, J.F.; Marinaki, A.; Riches, P.L.; Shu, X.; Janicijevic, B.; Smolej-Narancic, N.; Gorgoni, B.; Morgan, J.; Campbell, S.; Biloglav, Z.; Barac-Lauc, L.; Pericic, M.; Klaric, I.M.; Zgaga, L.; Skaric-Juric, T.; Wild, S.H.; Richardson, W.A.; Hohenstein, P.; Kimber, C.H.; Tenesa, A.; Donnelly, L.A.; Fairbanks, L.D.; Aringer, M.; McKeigue, P.M.; Ralston, S.H.; Morris, A.D.; Rudan, P.; Hastie, N.D.; Campbell, H. and Wright, A.F. SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
Nat Genet 40(4):437-442, 2008
PubMed Abstract - Campbell, H.; Carothers, A.D.; Rudan, I.; Hayward, C.; Biloglav, Z.; Barac, L.; Pericic, M.; Janicijevic, B.; Smolej-Narancic, N.; Polasek, O.; Kolcic, I.; Weber, J.L.; Hastie, N.D.; Rudan, P. and Wright, A.F. Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traits. Hum Mol Genet 16(2):233-241, 2007
PubMed Abstract - Shu, X.; Black, G.C.; Rice, J.M.; Hart-Holden, N.; Jones, A.; O'Grady, A.; Ramsden, S. and Wright, A.F. RPGR mutation analysis and disease: an update. Hum Mutat 28(4):322-328, 2007
PubMed Abstract - Wright, A.F. and Shu, X. Focus on Molecules: RPGR. Experimental Eye Research 85(1):1-2, 2007 PubMed Abstract
- Yates, J.R.; Sepp, T.; Matharu, B.K.; Khan, J.C.; Thurlby, D.A.; Shahid, H.; Clayton, D.G.; Hayward, C.; Morgan, J.; Wright, A.F.; Armbrecht, A.M.; Dhillon, B.; Deary, I.J.; Redmond, E.; Bird, A.C. and Moore, A.T. Complement C3 variant and the risk of age-related macular degeneration. New England Journal of Medicine 357(6):553-561, 2007
PubMed Abstract - Rudan, I.; Campbell, H.; Carothers, A.D.; Hastie, N.D. and Wright, A.F. Contribution of consanguinuity to polygenic and multifactorial diseases. Nat Genet 38(11):1224-1225, 2006 PubMed Abstract
- Vitart, V.; Biloglav, Z.; Hayward, C.; Janicijevic, B.; Smolej-Narancic, N.; Barac, L.; Pericic, M.; Klaric, I.M.; Skaric-Juric, T.; Barbalic, M.; Polasek, O.; Kolcic, I.; Carothers, A.; Rudan, P.; Hastie, N.; Wright, A.; Campbell, H. and Rudan, I. 3000 years of solitude: extreme differentiation in the island isolates of Dalmatia, Croatia. Eur J Hum Genet 14(4):478-487, 2006
PubMed Abstract - Vitart, V.; Carothers, A.D.; Hayward, C.; Teague, P.; Hastie, N.D.; Campbell, H. and Wright, A.F. Increased level of linkage disequilibrium in rural compared with urban communities: a factor to consider in association-study design. Am J Hum Genet 76(5):763-772, 2005
PubMed Abstract - Wright, A.F.; Jacobson, S.G.; Cideciyan, A.V.; Roman, A.J.; Shu, X.; Vlachantoni, D.; McInnes, R.R. and Riemersma, R.A. Life span and mitchondrial control of neurodegeneration.
Nature Genetics 36(11):1153-1158, 2004
PubMed Abstract - Wright, A.; Charlesworth, B.; Rudan, I.; Carothers, A. and Campbell, H. A polygenic basis for late-onset disease. Trends in Genetics 19(2):97-106, 2003
PubMed Abstract - Boylan, J.P. and Wright, A.F. Identification of a novel protein interacting with RPGR.
Human Molecular Genetics 9(14):2085-2093, 2000
PubMed Abstract - Vervoort, R.; Lennon, A.; Bird, A.C.; Tulloch, B.; Axton, R.; Miano, M.G.; Meindl, A.; Meitinger, T.; Ciccodicola, A.A. and Wright, A.F. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet 25(4):462-466, 2000
PubMed Abstract