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Article

[Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2011

Zhang Shi-de, Liu Jing-jing, Tian Wei, Zhao Zheng-juan, Zhao Jing-jun

Abstract excerpt

OBJECTIVE: To investigate the gene mutation in one sporadic case of bullous congenital ichthyosiform erythroderma (BCIE), and to explore the relationship between the genotype and phenotype. METHODS: DNA was extracted from the blood samples of the patient with BCIE, unaffected members of the pedigree, and 50 unrelated healthy controls. PCR was used to amplify the hot spot fragment of keratin 1 (KRT1) and keratin...

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Source

Identifiers

PMID: 21811984
DOI: 10.3760/cma.j.issn.1003-9406.2011.04.014

Genes

KRT10
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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