Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family

Purpose: Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45 genes. Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. Methods: We performed a clinical and molecular genetic...

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Detalles Bibliográficos
Autores principales: Zobor, Ditta, Balousha, Ghassan, Baumann, Britta, Wissinger, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919667/
https://www.ncbi.nlm.nih.gov/pubmed/24520187

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