A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex

被引：19

作者：

Nomura, K

Shimizu, H

Meng, XM

Umeki, K

Tamai, K

Sawamura, D

Nagao, K

Kawakami, T

Nishikawa, T

Hashimoto, I

机构：

[1] KEIO UNIV,SCH MED,DEPT DERMATOL,TOKYO,JAPAN

[2] JAPANESE RED CROSS MED CTR,DEPT PREMATURE & NEONATAL MED,TOKYO,JAPAN

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1996年 / 107卷 / 02期

关键词：

tonofilament clump;

D O I：

10.1111/1523-1747.ep12329741

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We examined keratin K14 and K5 genes mutation in a Japanese Dowling-Meara epidermolysis bullosa simplex patient with severe generalized blistering and erosions at birth. The patient had a C to T transition at the first position of codon 174 in the keratin K5 gene, which resulted in a Leu-->Phe substitution at the highly conserved 1A domain in keratin K5. Thus, our results revealed a novel mutation in the helix initiation peptide of keratin K5.

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页码：253 / 254

页数：2

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