A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases

被引：13

作者：

Chmel, Nadja ^{[1
]}

Danescu, Sorina ^{[2
]}

Gruler, Amelie ^{[1
]}

Kiritsi, Dimitra ^{[1
]}

Bruckner-Tuderman, Leena ^{[1
]}

Kreuter, Alexander ^{[3
]}

Kohlhase, Juergen ^{[4
]}

Has, Cristina ^{[1
]}

机构：

[1] Univ Freiburg, Dept Dermatol, Med Ctr, Freiburg, Germany

[2] Univ Iuliu Hatieganu, Dept Dermatol, Cluj Napoca, Romania

[3] HELIOS St Elisabeth Hosp Oberhausen, Dept Dermatol Venereol & Allergol, Oberhausen, Germany

[4] Ctr Human Genet Freiburg, Freiburg, Germany

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2015年 / 135卷 / 11期

关键词：

GENE; SPECTRUM;

D O I：

10.1038/jid.2015.227

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：2876 / 2879

页数：4

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