Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis

被引：1

作者：

Pietrusinski, M. ^{[1
]}

Stanczyk-Przyluska, A. ^{[2
]}

Chlebna-Sokol, D. ^{[3
]}

Borkowska, E. ^{[1
]}

Kaluzewski, B. ^{[1
]}

Borowiec, M. ^{[1
,4
]}

机构：

[1] Med Univ Lodz, Dept Clin Genet, PL-92213 Lodz, Poland

[2] Med Univ Lodz, Dept Pediat Prevent Cardiol & Immunol, PL-92213 Lodz, Poland

[3] Med Univ Lodz, Dept Pediat Propedeut & Bone Metab Dis, PL-92213 Lodz, Poland

[4] Med Univ Lodz, Dept Paediat Oncol Haematol & Diabetol, PL-92213 Lodz, Poland

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2015年 / 40卷 / 08期

关键词：

RECESSIVE CONGENITAL ICHTHYOSIS; POPULATION;

D O I：

10.1111/ced.12456

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：921 / 923

页数：3

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