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Article

ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Sept 2002

Fukui Takehiro, Yamamoto Shuji, Nakano Kaoru, Tsujikawa Motokazu, Morimura Hiroyuki, Nishida Koji, Ohguro Nobuyuki, Fujikado Takashi, Irifune Motohiro, Kuniyoshi Kazuki, Okada Annabelle A, Hirakata Akito, Miyake Yozo, Tano Yasuo

Abstract excerpt

PURPOSE: To evaluate photoreceptor cell-specific adenosine triphosphate (ATP)-binding cassette transporter (ABCA4) gene mutations in Japanese patients with Stargardt disease (STGD) and the correlation of these mutations to clinical phenotypes. METHODS: Serum was obtained from 10 unrelated Japanese patients with STGD and 96 unrelated Japanese patients with autosomal recessive retinitis pigmentosa (arRP). All 50...

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Identifiers

PMID: 12202497

Genes

ABCA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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