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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Detaylı Bibliyografya
Yayımlandı:J Invest Dermatol
Asıl Yazarlar: Jin, Liang, Jiang, Qiujie, Wu, Zhengsheng, Shao, Changxia, Zhou, Yong, Yang, Luting, Uitto, Jouni, Wang, Gang
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Article
Online Erişim: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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