Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 were recently ide...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Chen, Mingfei, Li, Yi, Liu, Hong, Fu, Xi'an, Yu, Yiongxiang, Yu, Gongqi, Wang, Chuan, Bao, Fangfang, Liany, Herty, Wang, Zhenzhen, Shi, Zhongxiang, Zhang, Dizhan, Zhou, Guizhi, Liu, Jianjun, Zhang, Furen
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2014
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4144801/
https://ncbi.nlm.nih.gov/pubmed/25157627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0104496
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