An in‐frame 18 bp deletion in linker domain <scp>L1</scp> of <i>KRT9</i> identified in a Japanese patient with epidermolytic palmoplantar keratoderma-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

An in‐frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma

Published:2023-07-03 Issue:11 Volume:50 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Omi Michiya¹^ORCID,Takeichi Takuya¹^ORCID,Chiba Tomoko²,Asano Yoshihide²,Muro Yoshinao¹^ORCID,Akiyama Masashi¹^ORCID

Affiliation:

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

2. Department of Dermatology Tohoku University Graduate School of Medicine Sendai Japan

Funder

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16880

Reference5 articles.

1. Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation

2. 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

3. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

4. Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma

5. Japanese guidelines for the management of palmoplantar keratoderma

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP