Next-Generation Diagnostics for Inherited Skin Disorders

被引：13

作者：

Lai-Cheong, Joey E. ^{[1
]}

McGrath, John A. ^{[1
]}

机构：

[1] Kings Coll London, St Johns Inst Dermatol, London WC2R 2LS, England

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2011年 / 131卷 / 10期

关键词：

MUTATIONS; GENE; NEUTROPENIA; UNDERLIES; SIMPLEX; DISEASE;

D O I：

10.1038/jid.2011.253

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Identifying genes and mutations in the monogenic inherited skin diseases is a challenging task. Discoveries are cherished but often gene-hunting efforts have gone unrewarded because technology has failed to keep pace with investigators' enthusiasm and clinical resources. But times are changing. The recent arrival of next-generation sequencing has transformed what can now be achieved.

引用

页码：1971 / 1973

页数：3

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