Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing-Reference-Cited by-同舟云学术

Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing

Published:2021-07-19 Issue:8 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ma Thi Huyen Thuong¹²,Luong Thi Lan Anh³,Hoang Thu Lan³,Nguyen Thi Thanh Hoa¹,Vu Thi Ha³,Tran Van Khoa⁴,Nguyen Duy Bac⁴,Trieu Tien Sang⁴,Nguyen Hai Ha¹²^ORCID,Nong Van Hai¹²^ORCID,Nguyen Dang Ton¹²^ORCID

Affiliation:

1. Institute of Genome Research Vietnam Academy of Science and Technology Hanoi Vietnam

2. Graduate University of Science and TechnologyVietnam Academy of Science and Technology Hanoi Vietnam

3. Hanoi Medical University Hanoi Vietnam

4. Vietnam Military Medical University Hanoi Vietnam

Funder

National Foundation for Science and Technology Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1748

Reference26 articles.

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3. Premature Termination Codon Mutations in the Type VII Collagen Gene in Recessive Dystrophic Epidermolysis Bullosa Result in Nonsense-Mediated mRNA Decay and Absence of Functional Protein

4. Glycine substitutions in the triple‐helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance;Christiano A. M.;American Journal of Human Genetics,1996

5. Influence of the Second COL7A1 Mutation in Determining the Phenotypic Severity of Recessive Dystrophic Epidermolysis Bullosa

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3. Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam;The Application of Clinical Genetics;2021-12