一个患有毛发念珠状发的中国汉族家庭中hHb6的E402K突变 - Suppr

Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.

作者信息

ZHANG Shi-de, MENG Jin, ZHAO Jing-Jun, TIAN Wei

出版信息

Eur J Dermatol. 2009 Sep-Oct;19(5):508-9. doi: 10.1684/ejd.2009.0717. Epub 2009 Jun 8.

DOI:10.1684/ejd.2009.0717

PMID:19505862

Abstract

摘要

相似文献

Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.

Eur J Dermatol. 2009 Sep-Oct;19(5):508-9. doi: 10.1684/ejd.2009.0717. Epub 2009 Jun 8.

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Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

J Invest Dermatol. 1999 Aug;113(2):263-6. doi: 10.1046/j.1523-1747.1999.00685.x.

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

J Invest Dermatol. 1999 Oct;113(4):607-12. doi: 10.1046/j.1523-1747.1999.00722.x.

Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.

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A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix.

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引用本文的文献

A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix.

J Biomed Res. 2011 Jan;25(1):49-55. doi: 10.1016/S1674-8301(11)60006-7.

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Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.

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