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Article

A new Gsdma3 mutation affecting anagen phase of first hair cycle.

Biochemical and biophysical research communications - 10 Aug 2007

Tanaka Shigekazu, Tamura Masaru, Aoki Aya, Fujii Tomoaki, Komiyama Hiromitsu, Sagai Tomoko, Shiroishi Toshihiko

Abstract excerpt

Recombination-induced mutation 3 (Rim3) is a spontaneous mouse mutation that exhibits dominant phenotype of hyperkeratosis and hair loss. Fine linkage analysis of Rim3 and sequencing revealed a novel single point mutation, G1124A leading to Ala348Thr, in Gsdma3 in chromosome 11. Transgenesis with BAC DNA harboring the Rim3-type Gsdma3 recaptured the Rim3 phenotype, providing direct evidence that Gsdma3 is the...

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PMID: 17572385
DOI: 10.1016/j.bbrc.2007.05.209

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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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