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Article

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

Eye (London, England) - 1 Sept 2015

Rose A M, Sergouniotis P, Alfano G, Muspratt-Tucker N, Barton S, Moore A T, Black G, Bhattacharya S S, Webster A R

Abstract excerpt

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 mutations in this gene. METHODS: The FAM161A coding region and intron-exon boundaries were screened by Sanger...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26113502
DOI: 10.1038/eye.2015.93
PMCID: PMC4565954

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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