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Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP

Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis and a severe chronic autosomal dominant cutaneous disorder with high genetic heterogeneity. Recently, the mevalonate kinase (MVK) gene has been identified as a candidate gene responsible for DSAP and multi...

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Autors principals: Lu, Wen-Sheng, Zheng, Xiao-Dong, Yao, Xiu-Hua, Zhang, Lan-Fang, Hu, Bai, Lu, Yao-Juan
Format: Artigo
Idioma:Inglês
Publicat: e-Century Publishing Corporation 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3925920/
https://ncbi.nlm.nih.gov/pubmed/24551296
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