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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144801/
https://www.ncbi.nlm.nih.gov/pubmed/25157627
http://dx.doi.org/10.1371/journal.pone.0104496

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144801/
https://www.ncbi.nlm.nih.gov/pubmed/25157627
http://dx.doi.org/10.1371/journal.pone.0104496

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