A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature-Reference-Cited by-同舟云学术

A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature

Published:2019-11-10 Issue:6 Volume:19 Page:1508-1512
ISSN:1473-2130
Container-title:Journal of Cosmetic Dermatology
language:en
Short-container-title:J Cosmet Dermatol

Author:

Jin Ling¹²,Li Zhi¹²^ORCID,Xin Cong¹²^ORCID,Tang Lili¹²,Zhang Xuejun¹²,Zhang Bo³,Yang Sen¹²

Affiliation:

1. Institute of Dermatology and Department of Dermatology The First Affiliated Hospital Anhui Medical University Hefei Anhui China

2. Key Laboratory of Dermatology Ministry of Education Anhui Medical University Hefei Anhui China

3. Department of Oncology The Second Affiliated Hospital Anhui Medical University Hefei Anhui China

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jocd.13172

Reference25 articles.

1. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa

2. Type VII Collagen, Anchoring Fibrils, and Epidermolysis Bullosa

3. Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa;Ryynänen M;Am J Hum Genet,1991

4. Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

5. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

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2. Investigation of Genetic Mutations in the Exon-intron Regions of the COL7A1 Gene in five Family Case Reports with Epidermolysis Bullosa in Khuzestan Province;Gene, Cell and Tissue;2023-02-01

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