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Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.

Investigative ophthalmology & visual science - 1 Feb 2010

Li Ningdong, Mei Han, MacDonald Ian M, Jiao XiaoDong, Hejtmancik J Fielding

Abstract excerpt

PURPOSE: To localize and identify the gene and mutations causing autosomal dominant retinitis pigmentosa in a Chinese Family. METHODS: Families were ascertained and patients underwent complete ophthalmic examinations. Blood samples were collected and DNA was extracted. A linkage scan of genomic regions containing known candidate genes was performed by using 34 polymorphic microsatellite markers on genomic DNA...

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Identifiers

PMID: 19710410
DOI: 10.1167/iovs.09-3725
PMCID: PMC2868455

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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