Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India-Reference-Cited by-同舟云学术

Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India

Published:2017-04 Issue:1 Volume:86 Page:30-36
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Yenamandra Vamsi K,Vellarikkal Shamsudheen K,Kumar Manoj,Chowdhury Madhumita R,Jayarajan Rijith,Verma Ankit,Scaria Vinod,Sivasubbu Sridhar,Ray Subrata B.,Dinda Amit K,Kabra Madhulika,Kaur Punit,Sharma Vinod K,Sethuraman Gomathy

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference29 articles.

1. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J. Am. Acad. Dermatol.,2014

2. Herlitz Junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population frequency in the Netherlands;Yuen;Br. J. Dermatol.,2011

3. Laminin-5 mutational analysis in an italian cohort of patients with junctional epidermolysis bullosa;Posteraro;J. Invest. Dermatol.,2004

4. 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

5. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants;Varki;J. Med. Genet.,2006

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