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Article

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.

Genetics and molecular research : GMR - 18 Nov 2013

Cai C Y, Zhu H, Shi W, Su L, Shi O, Cai C Q, Ling C, Li W D

Abstract excerpt

Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp photography and optical coherence tomography were performed for the proband. Genomic DNA was extracted from a whole blood sample from...

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Source

Identifiers

PMID: 24301936
DOI: 10.4238/2013.November.18.16

Genes

FRMD7

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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