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Article

Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Sept 2011

Lam Kevin, Guo Haiyan, Wilson Graham A, Kohl Susanne, Wong Fulton

Abstract excerpt

OBJECTIVE: To report disease-causing mutations in the cyclic nucleotide-gated channel α 3 gene (CNGA3) identified by exome sequencing and bioinformatics filtering in a single patient. METHODS: The entire protein-coding sequence of a patient with a retinal disease was enriched by in-solution targeted capture and massively parallel sequenced at 50-fold coverage. The assembled sequence was compared with databases of...

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Identifiers

PMID: 21911670
DOI: 10.1001/archophthalmol.2011.254

Genes

CNGA3

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Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient.PMID 21911670Read ↗

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