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Article

[Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2009

Tang Xiaohui, Kang Xiaojing, Sun Miao, Dili Nuer, He Yuhong, Wu Xiujuan, Liu Jianyong, Wu Weidong, Pu Xiongming

Abstract excerpt

OBJECTIVE: To map and identify the disease gene for the epidermolytic palmoplantar keratoderma (EPPK) in a Uighur family of China. METHODS: Blood samples were collected and genomic DNA was extracted from 48 members of the Xinjiang Uighur family. Six microsatellite repeat sequences on chromosome region 17q12-q21 and 12q13 were selected based on the two known candidate genes KRT9 and KRT1. Two-point linkage...

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Identifiers

PMID: 19953481
DOI: 10.3760/cma.j.issn.1003-9406.2009.06.003

Genes

KRT9
KRT1

Provenance

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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