Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration

The rd3 mouse is one of the oldest identified models of early-onset retinal degeneration. Using the positional candidate approach, we have identified a C→T substitution in a novel gene, Rd3, that encodes an evolutionarily conserved protein of 195 amino acids. The rd3 mutation results in a predicted...

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Библиографические подробности
Главные авторы: Friedman, James S. , Chang, Bo , Kannabiran, Chitra , Chakarova, Christina , Singh, Hardeep P. , Jalali, Subhadra , Hawes, Norman L. , Branham, Kari , Othman, Mohammad , Filippova, Elena , Thompson, Debra A. , Webster, Andrew R. , Andréasson, Sten , Jacobson, Samuel G. , Bhattacharya, Shomi S. , Heckenlively, John R. , Swaroop, Anand 
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2006
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698706/
https://ncbi.nlm.nih.gov/pubmed/17186464
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