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Article

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

Molecular vision - 1 Jan 2012

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

Abstract excerpt

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 fundoscopy, and assessing visual field and color vision. Genomic DNA of the three affected individuals was analyzed with...

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PMID: 23077400
PMCID: PMC3472925

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