Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain ofKRT1in a family with diffuse palmoplantar keratoderma-Reference-Cited by-同舟云学术

Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain ofKRT1in a family with diffuse palmoplantar keratoderma

Published:2015-01-27 Issue:2 Volume:24 Page:152-155
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Exp Dermatol

Author:

Banerjee Santasree¹,Ren Yunqing²,Wei Tianying¹,Zhou Zhongwei¹,Yu Ping¹,Guan Fenghui³,Wei Xiaonming⁴,Ye Sheng³,Yan Shaofeng⁵,Zheng Min²,Raff Michael L⁶,Qi Ming¹⁷

Affiliation:

1. Department of Cell Biology and Medical Genetics; School of Medicine; Zhejiang University; Hangzhou China

2. Department of Dermatology; Second Affiliated Hospital; School of Medicine; Zhejiang University; Hangzhou China

3. Centre for Structural Biology; Life Sciences Institute; Zhejiang University; Hangzhou China

4. Beijing Genomic Institute (BGI); Shenzhen China

5. Pathology; Dartmouth-Hitchcock Medical Center; Lebanon NH USA

6. Genomics Institute; MultiCare Health System; Tacoma WA USA

7. Department of Pathology; University of Rochester Medical Centre; Rochester NY USA

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/exd.12610/fullpdf

Reference13 articles.

1. Palmoplantar Keratodermas

2. Genetic disorders of palm skin and nail

3. Molecular Diagnosis of Genodermatoses

4. New consensus nomenclature for mammalian keratins

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