Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa-Reference-Cited by-同舟云学术

Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa

Published:2018-12 Issue:49 Volume:97 Page:e13225
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Wang Hairong,Yang Yun,Zhou Jieqiong,Cao Jiangxia,He Xuelian,Li Long,Gao Shuyang,Mao Bing,Tian Ping,Zhou Aifen

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference22 articles.

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2. Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease;Muhle;Hum Genet,2005

3. Biological function of laminin-5 and pathogenic impact of its deficiency;Schneider;Eur J Cell Biol,2007

4. Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the National Epidermolysis Bullosa Registry;Fine;JAMA Dermatol,2016

5. Differential cytokine modulation of the genes LAMA3, LAMB3, and LAMC2, encoding the constitutive polypeptides, alpha 3, beta 3, and gamma 2, of human laminin 5 in epidermal keratinocytes;Korang;FEBS Lett,1995

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