Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration

BACKGROUND: Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders such as age-related macular degeneration (AMD). Despite substantial progress in determining the causal genetic variatio...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Zernant, Jana, Lee, Winston, Collison, Frederick T, Fishman, Gerald A, Sergeev, Yuri V, Schuerch, Kaspar, Sparrow, Janet R, Tsang, Stephen H, Allikmets, Rando
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5786429/
https://ncbi.nlm.nih.gov/pubmed/28446513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-104540
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