Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis.

Author: Xiao BAI ¹ ; Jia-Wei LIU ² ; Dong-Lai MA ²
Author Information

1. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730; Department of Medical Genetics, McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100005, China.
2. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Publication Type:Case Reports
MeSH: Adult; Asian Continental Ancestry Group; genetics; Extracellular Matrix Proteins; genetics; Humans; Lipoid Proteinosis of Urbach and Wiethe; genetics; Male; Mutation
From: Chinese Medical Journal 2016;129(22):2765-2766
CountryChina
Language:English