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The novel tetratricopeptide repeat domain 7 mutation, Ttc7fsn-Jic, with deletion of the TPR-2B repeat causes severe flaky skin phenotype.

Experimental biology and medicine (Maywood, N.J.) - 1 May 2007

Takabayashi Shuji, Iwashita Shuichi, Hirashima Tsukasa, Katoh Hideki

Abstract excerpt

We carried out molecular analyses of the novel flaky skin mutation, Ttc7(fsn-Jic )(a synonym for fsn(Jic)), which we found in a previous study. It was revealed that this mutation involved a genomic in-frame deletion including exons 9 and 10 of the Ttc7 gene, and that the genomic deletion in Ttc7 (fsn-Jic )may disrupt the tetratricopeptide repeat-2B domain of the TTC7 protein. Based on a comparison of three Ttc7...

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Identifiers

PMID: 17463167

Genes

TPR

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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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