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Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

Retinitis pigmentosa is a genetically heterogeneous form of retinal degeneration that affects ~1 in 3500 people worldwide. Recently we identified the gene responsible for the RP1 form of autosomal dominant retinitis pigmentosa (adRP) at 8q11–12 and found two different nonsense mutations in three fam...

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Bibliografiske detaljer
Main Authors: Bowne, Sara J., Daiger, Stephen P., Hims, Matthew M., Sohocki, Melanie M., Malone, Kimberly A., McKie, Arthur B., Heckenlively, John R., Birch, David G., Inglehearn, Chris F., Bhattacharya, Shomi S., Bird, Alan, Sullivan, Lori S.
Format: Artigo
Sprog:Inglês
Udgivet: 1999
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2585827/
https://ncbi.nlm.nih.gov/pubmed/10484783
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