Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.

作者信息

Wilson Neil J, Pérez Mónica L Cárdenas, Vahlquist Anders, Schwartz Mary E, Hansen C David, McLean W H Irwin, Smith Frances J D

出版信息

J Invest Dermatol. 2012 Jul;132(7):1921-4. doi: 10.1038/jid.2011.484. Epub 2012 Feb 16.

DOI:10.1038/jid.2011.484

PMID:22336949

Abstract

摘要

相似文献

Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.

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Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.多发性皮脂囊肿与KRTl7基因中的R94C突变相关。

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