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Volumn 38, Issue 1, 2003, Pages 33-40

Autosomal dominant macular dystrophy in a large Canadian family

Author keywords

Autosomal dominant inheritance; Macular dystrophy; RDS gene mutation

Indexed keywords

AMINO ACID; ARGININE; TRYPTOPHAN;

EID: 0037297069     PISSN: 00084182     EISSN: 17153360     Source Type: Journal    
DOI: 10.1016/S0008-4182(03)80006-6     Document Type: Article
Times cited : (7)

References (11)
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  • 2
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  • 3
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    • The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein
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  • 4
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    • Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene
    • Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol 1993;111:1531-42.
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    • Payne AM, Downes SM, Bessant DA, Bird AC, Bhattacharya SS. Founder effect, seen in the British population, of the 172 peripherin/RDS mutation - and further refinement of genetic positioning of the peripherin/RDS gene. Am J Hum Genet 1998;62:192-5.
    • (1998) Am J Hum Genet , vol.62 , pp. 192-195
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  • 6
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    • A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration
    • Ekstrom U, Andreasson S, Ponjavic V, Abrahamson M, Sandgren O, Nilsson-Ehle P, et al. A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. Ophthalmic Genet 1998;19:149-56.
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    • A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.