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Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.

作者信息

Mao Bin, Zhang Jing, You Yi, Xiao Jifang, Zhao Xiuli

机构信息

Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, China.

出版信息

J Dermatol. 2018 Feb;45(2):e45-e46. doi: 10.1111/1346-8138.14087. Epub 2017 Oct 17.

DOI:10.1111/1346-8138.14087
PMID:29044727
Abstract
摘要

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1
Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.在中国四个家族中,导致表皮松解性掌跖角化病的角蛋白9高度保守的1A杆状结构域发生突变。
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引用本文的文献

1
Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review.一个中国家系的表皮松解性掌跖角化病中角蛋白 9 L164P 突变,细胞角蛋白分析,并文献复习。
Mol Genet Genomic Med. 2019 Nov;7(11):e977. doi: 10.1002/mgg3.977. Epub 2019 Sep 16.
2
Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma.外显子组测序在中国一个大疱性表皮松解性掌跖角化过度症家系中发现 KRT9 致病性变异。
Mol Genet Genomic Med. 2019 Jul;7(7):e00703. doi: 10.1002/mgg3.703. Epub 2019 May 9.
3
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma.
KRT9基因的遗传分析揭示了表皮松解性掌跖角化病中先前已知的突变及基因型-表型相关性。
Front Genet. 2019 Jan 7;9:645. doi: 10.3389/fgene.2018.00645. eCollection 2018.