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Article

Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa.

Ophthalmic genetics - 1 Jan 2000

Sugahara Masako, Oishi Maho, Oishi Akio, Ogino Ken, Morooka Satoshi, Gotoh Norimoto, Kang Inyeop, Yoshimura Nagahisa

Abstract excerpt

PURPOSE: In this study, we aimed to detect mutations in the SLC7A14 cationic transporter gene, which has recently been reported as a causative gene for retinitis pigmentosa (RP), in Japanese patients with autosomal recessive (AR) or sporadic RP. MATERIALS AND METHODS: We included 146 unrelated Japanese patients with AR or sporadic RP who lacked mutations in genes known to be associated with RP despite...

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Identifiers

PMID: 27028480
DOI: 10.3109/13816810.2015.1136336

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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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