Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria

BACKGROUND: Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causative mut...

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Bibliografiske detaljer
Udgivet i:BMC Med Genomics
Main Authors: Cao, Lu, Zhang, Ruixue, Yong, Liang, Chen, Shirui, Zhang, Hui, Chen, Weiwei, Xu, Qiongqiong, Ge, Huiyao, Mao, Yiwen, Zhen, Qi, Yu, Yafen, Hu, Xia, Sun, Liangdan
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8236144/
https://ncbi.nlm.nih.gov/pubmed/34174894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01014-w
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