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Article

Differential pattern of RP1 mutations in retinitis pigmentosa.

Molecular vision - 15 Jul 2010

Zhang Xin, Chen Li Jia, Law Jonathan P, Lai Timothy Y Y, Chiang Sylvia W Y, Tam Pancy O S, Chu Kwan Yi, Wang Ningli, Zhang Mingzhi, Pang Chi Pui

Abstract excerpt

PURPOSE: Retinitis pigmentosa 1 (RP1) is a major gene responsible for both autosomal dominant and autosomal recessive retinitis pigmentosa (RP). We have previously identified three disease-causing mutations out of 174 RP patients. In this study, we investigated a new cohort of Chinese RP patients to further evaluate the contribution of RP1 mutations to cause RP. METHODS: A group of 55 nonsyndromic RP patients,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20664799
PMCID: PMC2905640

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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