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Article

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.

Molecular vision - 1 Jan 2014

Li David, Jin Chongfei, Jiao Xiaodong, Li Lin, Bushra Tahmina, Naeem Muhammad Asif, Butt Nadeem H, Husnain Tayyab, Sieving Paul A, Riazuddin Sheikh, Riazuddin S Amer, Hejtmancik J Fielding

Abstract excerpt

PURPOSE: To localize and identify the gene and mutations causing autosomal recessive retinal dystrophy in two consanguineous Pakistani families. METHODS: Consanguineous families from Pakistan were ascertained to be affected with autosomal recessive retinal degeneration. All affected individuals underwent thorough ophthalmologic examinations. Blood samples were collected, and genomic DNA was extracted using a...

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Identifiers

PMID: 24426771
PMCID: PMC3888496

Genes

AIPL1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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