Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family

PURPOSE: The purpose of this study was to identify the underlying molecular genetic defect in an Indonesian family with three affected individuals who had received a diagnosis of retinitis pigmentosa (RP). METHODS: Clinical evaluation of the family members included measuring visual acuity and fundos...

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Detalles Bibliográficos
Autores principales: Siemiatkowska, Anna M., Astuti, Galuh D.N., Arimadyo, Kentar, den Hollander, Anneke I., Faradz, Sultana M.H., Cremers, Frans P.M., Collin, Rob W.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472925/
https://www.ncbi.nlm.nih.gov/pubmed/23077400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472925/
https://www.ncbi.nlm.nih.gov/pubmed/23077400

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