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2. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Alexander C; Votruba M; Pesch UE; Thiselton DL; Mayer S; Moore A; Rodriguez M; Kellner U; Leo-Kottler B; Auburger G; Bhattacharya SS; Wissinger B Nat Genet; 2000 Oct; 26(2):211-5. PubMed ID: 11017080 [TBL] [Abstract][Full Text] [Related]
3. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Bomont P; Watanabe M; Gershoni-Barush R; Shizuka M; Tanaka M; Sugano J; Guiraud-Chaumeil C; Koenig M Eur J Hum Genet; 2000 Dec; 8(12):986-90. PubMed ID: 11175288 [TBL] [Abstract][Full Text] [Related]
4. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22. Barbet F; Gerber S; Hakiki S; Perrault I; Hanein S; Ducroq D; Tanguy G; Dufier JL; Munnich A; Kaplan J; Rozet JM Adv Exp Med Biol; 2006; 572():21-7. PubMed ID: 17249550 [No Abstract] [Full Text] [Related]
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7. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Riazuddin SA; Yasmeen A; Zhang Q; Yao W; Sabar MF; Ahmed Z; Riazuddin S; Hejtmancik JF Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):623-6. PubMed ID: 15671291 [TBL] [Abstract][Full Text] [Related]
8. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. Faivre L; Mégarbané A; Alswaid A; Zylberberg L; Aldohayan N; Campos-Xavier B; Bacq D; Legeai-Mallet L; Bonaventure J; Munnich A; Cormier-Daire V Hum Genet; 2002 Apr; 110(4):366-70. PubMed ID: 11941487 [TBL] [Abstract][Full Text] [Related]