Localized epidermolysis bullosa simplex caused by a previously unreported substitution in the linker 12 domain of keratin 14-Reference-Cited by-同舟云学术

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Localized epidermolysis bullosa simplex caused by a previously unreported substitution in the linker 12 domain of keratin 14

Published:2024-02-16 Issue:8 Volume:51 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Misaki Miyu¹,Takeichi Takuya¹²^ORCID,Omi Michiya¹^ORCID,Ito Yasutoshi¹^ORCID,Ogi Tomoo³⁴,Muro Yoshinao¹^ORCID,Akiyama Masashi¹^ORCID

Affiliation:

1. Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan

2. Nagoya University Institute for Advanced Research Nagoya Japan

3. Department of Genetics Research Institute of Environmental Medicine, Nagoya University Nagoya Japan

4. Department of Human Genetics and Molecular Biology Nagoya University Graduate School of Medicine Nagoya Japan

Funder

Ministry of Health, Labour and Welfare

Japan Agency for Medical Research and Development

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.17165

Reference5 articles.

1. A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia

2. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4. Missing links: Weber–Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

5. Keratin 14 Gene Mutations in Patients with Epidermolysis Bullosa Simplex

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