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Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.

作者信息

Bai Z-L, Feng Y-G, Tan S-S, Wang X-Y, Xiao S-X, Wang H, Jia H-Q, Wu J-W, He D-L, Kang R-H

出版信息

Br J Dermatol. 2008 Jul;159(1):238-40. doi: 10.1111/j.1365-2133.2008.08603.x. Epub 2008 Jul 1.

DOI:10.1111/j.1365-2133.2008.08603.x
PMID:18489596
Abstract
摘要

相似文献

1
Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.在1型先天性厚甲症中,KRT6A突变比KRT16突变更常见:两个无关中国家庭中一个新突变和一个最近报道突变的报告。
Br J Dermatol. 2008 Jul;159(1):238-40. doi: 10.1111/j.1365-2133.2008.08603.x. Epub 2008 Jul 1.
2
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.两个中国先天性厚甲症家系中存在 KRT6A 和 KRT16 基因突变,伴有裂舌或弥漫性跖部角化过度。
Eur J Dermatol. 2012 Jul-Aug;22(4):476-80. doi: 10.1684/ejd.2012.1773.
3
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.先天性厚甲症患者中,KRT6A 基因突变者的疾病比 KRT16 基因突变者更为广泛。
Br J Dermatol. 2012 Apr;166(4):875-8. doi: 10.1111/j.1365-2133.2011.10745.x.
4
The molecular genetic analysis of the expanding pachyonychia congenita case collection.先天性厚甲症病例集扩充的分子遗传学分析
Br J Dermatol. 2014 Aug;171(2):343-55. doi: 10.1111/bjd.12958. Epub 2014 Aug 6.
5
Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1.
Br J Dermatol. 2009 Jun;160(6):1327-9. doi: 10.1111/j.1365-2133.2009.09062.x. Epub 2009 Mar 11.
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A large mutational study in pachyonychia congenita.大样本先天性厚甲症基因突变研究。
J Invest Dermatol. 2011 May;131(5):1018-24. doi: 10.1038/jid.2011.20. Epub 2011 Feb 17.
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[Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I].
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A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.一个 KRT16 突变在第一个中国人常染色体显性遗传性厚甲症家系中的发现及文献复习
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A recurrent missense mutation in the KRT16 gene causing pachyonychia congenita in a patient.一名患者中KRT16基因的复发性错义突变导致先天性厚甲症。
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A novel mutation in a case of pachyonychia congenita from India.
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引用本文的文献

1
A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita.中国先天性厚甲症患者中的KRT6A和一种新型KRT16基因突变
Int J Gen Med. 2021 Mar 17;14:903-907. doi: 10.2147/IJGM.S280160. eCollection 2021.