Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing

Background The mutations of thiamine pyrophosphokinase-1 (TPK1) gene have been frequently studied in some patients with thiamine metabolism dysfunction syndrome-5 (THMD5), while TPK1 mutations in Chinese patients have been investigated by only homozygous. A search of the literature on the mutations...

Full description

Bibliographic Details

Published in:	Journal of pediatric endocrinology & metabolism : JPEM Vol. 32; no. 3; p. 295
Main Authors:	Zhu, Lina, Wu, Ruijuan, Ye, Zhenlong, Gu, Ruijie, Wang, Yongxia, Hou, Yu, Feng, Zhichun, Ma, Xiuwei
Format:	Journal Article
Language:	English
Published:	Germany 26-03-2019
Subjects:	Brain - diagnostic imaging Humans Infant, Newborn Male Mutation Thiamin Pyrophosphokinase - genetics Thiamine Deficiency - diagnostic imaging Thiamine Deficiency - genetics Whole Exome Sequencing compound heterozygous TPK1 gene thiamine metabolism dysfunction syndrome-5
Online Access:	Get more information
Tags:	Add Tag No Tags, Be the first to tag this record!