Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations

Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by ectopic mineralization, is caused by mutations in the ABCC6 gene. We examined clinically 29 Chinese PXE patients from unrelated families, so far the largest cohort of Asian PXE patients. In a subset of 22 patients, we s...

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Detalhes bibliográficos
Publicado no:J Invest Dermatol
Main Authors: Jin, Liang, Jiang, Qiujie, Wu, Zhengsheng, Shao, Changxia, Zhou, Yong, Yang, Luting, Uitto, Jouni, Wang, Gang
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402129/
https://ncbi.nlm.nih.gov/pubmed/25615550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2015.10
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