Exome sequencing identified a missense mutation ofEPS8L3in Marie Unna hereditary hypotrichosis-Reference-Cited by-同舟云学术

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Exome sequencing identified a missense mutation ofEPS8L3in Marie Unna hereditary hypotrichosis

Published:2012-10-25 Issue:12 Volume:49 Page:727-730
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Zhang Xin,Guo Bi-Rong,Cai Li-Qiong,Jiang Tao,Sun Liang-Dan,Cui Yong,Hu Jing-Chu,Zhu Jun,Chen Gang,Tang Xian-Fa,Sun Guang-Qing,Tang Hua-Yang,Liu Yuan,Li Min,Li Qi-Bin,Cheng Hui,Gao Min,Li Ping,Yang Xu,Zuo Xian-Bo,Zheng Xiao-Dong,Wang Pei-Guang,Wang Jian,Wang Jun,Liu Jian-Jun,Yang Sen,Li Ying-Rui,Zhang Xue-Jun

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. ADAM17 variant causes hair loss via ubiquitin ligase TRIM47–mediated degradation;JCI Insight;2024-05-21

2. Comparative immunohistochemical analysis suggests a conserved role of EPS8L1 in epidermal and hair follicle barriers of mammals;Protoplasma;2023-10-27

3. A review of genotrichoses and hair pathology associated with inherited skin diseases;British Journal of Dermatology;2023-03-29

4. Update of recent findings in genetic hair disorders;The Journal of Dermatology;2021-10-21

5. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle;Genes;2021-07-04

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