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Article

Founder effect of the C9 R95X mutation in Orientals.

Human genetics - 1 Mar 2003

Khajoee Vahid, Ihara Kenji, Kira Ryutaro, Takemoto Megumi, Torisu Hiroyuki, Sakai Yasunari, Guanjun Jia, Hee Park Myoung, Tokunaga Katsushi, Hara Toshiro

Abstract excerpt

A nonsense mutation at codon 95 (R95X) in the C9 gene is responsible for most Japanese C9 deficiency (C9D) cases, with a carrier frequency of 6.7%. Upon analysis of microsatellite markers and newly identified dinucleotide repeat number polymorphisms in the 3' flanking region of the C9 gene, a founder effect was demonstrated for the R95X mutation of the C9 gene in Japanese. Screening for the R95X mutation in...

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PMID: 12596049
DOI: 10.1007/s00439-002-0870-8

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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