Polymorphisms of Keratin 16 and 6A Genes in Two Chinese Families with Pachyonychia Congenita TypeⅠ
- VernacularTitle:Ⅰ型先天性甲肥厚患者角蛋白16和6A基因多态性研究
- Author:
Xiaojing KANG
;
Miao SUN
;
Wei YANG
;
Min YU
;
Qiang JU
;
Huiyuan LUO
;
Longqing XIA
;
Xueqing ZHANG
;
- Publication Type:Journal Article
- Keywords:
Pachyonychia congenita;
Keratin;
Polymorphism, single nucleotide;
KRT16;
KRT6A
- From:
Chinese Journal of Dermatology
1994;0(02):-
- CountryChina
- Language:Chinese
-
Abstract:
G (E165E) in exon 1 of KRT6A gene, were found in this patient. Conclusions A novel single nucleotide polymorphism of KRT16 gene which can result in the change of amino acid sequence is firstly reported and some known single nucleotide polymorphisms in KRT16 and KRT6A genes are also found in this study.
