Utility of whole-exome sequencing in detecting novel compound heterozygous mutations inCOL7A1among families with severe recessive dystrophic epidermolysis bullosa in India - implications on diagnosis, prognosis and prenatal testing-Reference-Cited by-同舟云学术

Utility of whole-exome sequencing in detecting novel compound heterozygous mutations inCOL7A1among families with severe recessive dystrophic epidermolysis bullosa in India - implications on diagnosis, prognosis and prenatal testing

Published:2018-08-14 Issue:12 Volume:32 Page:e433-e435
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Mahajan R.¹,Vellarikkal S.K.²,Handa S.¹,Verma A.²,Jayarajan R.²,Kumar A.²,De D.¹,Kaur J.³,Panigrahi I.⁴,Vineeth V.S.⁵,Sivasubbu S.²⁶,Scaria V.⁷⁶

Affiliation:

1. Department of Dermatology; Venereology and Leprology; Postgraduate Institute of Medical Education and Research; Sector 12 Chandigarh 160 012 India

2. Genomics and Molecular Medicine; CSIR Institute of Genomics and Integrative Biology; Delhi India

3. Department of Obstetrics & Gynaecology; Postgraduate Institute of Medical Education and Research; Chandigarh 160012 India

4. Department of Pediatric Medicine; Postgraduate Institute of Medical Education and Research; Chandigarh 160012 India

5. Centre for DNA Fingerprinting and Diagnostics; 4-1-714, Tuljaguda Complex, Mozamzahi Road Nampally, Hyderabad Telangana India

6. Academy of Scientific and Innovative Research (AcSIR); AcSIR Headquarters CSIR-HRDC Campus; Postal Staff College Area; Sector 19 Kamla Nehru Nagar Ghaziabad Uttar Pradesh 201002 India

7. GN Ramachandran Knowledge Center for Genome Informatics; CSIR Institute of Genomics and Integrative Biology; Delhi 110025 India

Funder

Council for Scientific and Industrial Research

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.14909/fullpdf

Reference5 articles.

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

2. Immunofluorescence mapping in inherited epidermolysis bullosa: a study of 86 cases from India;Hiremagalore;Br J Dermatol,2015