Diverse clinical phenotypes associated with a nonsense mutation in FAM161A

PURPOSE: Mutations in the FAM161A gene have been reported in association with autosomal recessive retinitis pigmentosa (arRP) in several ethnic populations. This study aimed to assess the prevalence of FAM161A-related retinopathy in a British cohort and to characterise the phenotype associated with...

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Sparad:
Bibliografiska uppgifter
I publikationen:Eye (Lond)
Huvudupphovsmän: Rose, A M, Sergouniotis, P, Alfano, G, Muspratt-Tucker, N, Barton, S, Moore, A T, Black, G, Bhattacharya, S S, Webster, A R
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2015
Ämnen:
Laboratory Study
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4565954/
https://ncbi.nlm.nih.gov/pubmed/26113502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2015.93
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