Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis
详细信息 查看全文
- 作者：Ying Liua ; 1 ; Jiuxiang Wanga ; 1 ; Yayun Qina ; 1 ; Changzheng Huangb ; Stephen Archackic ; Juanjuan Maa ; Duanzuo Lid ; Mugen Liua ; lium@hust.edu.cn" class="auth_mail" title="E-mail the corresponding author
- 关键词：DSAP ; disseminated superficial actinic porokeratosis ; MVK ; mevalonate kinase ; CHX ; cycloheximide ; PK ; porokeratosis ; HIDS ; hyperimmunoglobulinaemia D and periodic fever syndrome ; MKD ; mevalonate kinase deficiency ; PP ; porokeratosis ptychotropica
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：15 February 2016
- 年：2016
- 卷：454
- 期：Complete
- 页码：124-129
- 全文大小：1083 K
文摘
- •
Two novel mutations for DSAP c.31C > T (P11S) and c.1004G > A (G335D) in MVK gene were identified.
- •
The three mutant MVK proteins identified in this study were less stable than the wild type protein in different degrees.
- •
Mutation G335D resulted in the misfolding of the ATP binding domain.