Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa-Reference-Cited by-同舟云学术

Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa

Published:2020-06-14 Issue:8 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Yang Neng¹²^ORCID,Ma Yongyi²,Yao Hong²,Chang Qing²,Zhang Victor³⁴,Liang Zhiqing²,Cai Xiongwei²^ORCID

Affiliation:

1. Key Laboratory of Freshwater Fish Reproduction and Development Ministry of Education Laboratory of Molecular Developmental Biology School of Life Sciences Southwest University Chongqing China

2. Department of Gynecology & Obstetrics Southwest HospitalThird Military Medical University (Army Medical University) Chongqing China

3. Department of Human and Molecular Genetics Baylor College of Medicine Houston TX USA

4. AmCare Genomics Lab Guangzhou China

Funder

Start-Up Funding Project of Southwest Hospital

Military Medicine Innovation Project

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1347

Reference16 articles.

1. Structural Organization of the Human Type VII Collagen Gene (COL7A1), Composed of More Exons Than Any Previously Characterized Gene

2. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

3. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

4. Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris

5. Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes

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