A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex

Author:

Banner Lauren1,Cohen Alexa1,McGrath Lauren1,Nikbakht Neda1,South Andrew P123

Affiliation:

1. Department of Dermatology and Cutaneous Biology , Philadelphia, PA , USA

2. The Joan and Joel Rosenbloom Research Center for Fibrotic Diseases , Philadelphia, PA , USA

3. Sidney Kimmel Cancer Center, Thomas Jefferson University , Philadelphia, PA , USA

Abstract

We describe a novel homozygous KRT14 (also known as K14) mutation detected in a patient with a relatively mild form of epidermolysis bullosa simplex (EBS). Our patient harbours loss of function of both alleles of the KRT14 gene. This is the 16th reported mutation of recessive EBS in KRT14.

Funder

NCI

Publisher

Oxford University Press (OUP)

Subject

Dermatology

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3