A case of intermediate recessive dystrophic epidermolysis bullosa with a novel <i>COL7A1</i> mutation-Reference-Cited by-同舟云学术

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A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation

Published:2024-02-06 Issue:7 Volume:51 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Koga Hiroshi¹^ORCID,Teye Kwesi²^ORCID,Hamada Takahiro¹^ORCID,Katsumi Tatsuya³,Takei Shingo³^ORCID,Hayashi Ryota³^ORCID,Nakama Takekuni¹

Affiliation:

1. Department of Dermatology Kurume University School of Medicine Fukuoka Japan

2. Kurume University Institute of Cutaneous Cell Biology Fukuoka Japan

3. Division of Dermatology Niigata University Graduate School of Medical and Dental Sciences Niigata Japan

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.17137

Reference5 articles.

1. Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

2. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

3. In This Issue: Glycine Substitution Mutations in the COL7A1 Gene: Implications for Inheritance of Dystrophic Epidermo- lysis Bullosa – Dominant vs. Recessive

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

5. Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

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