Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death.
- Author:
Ching-Wan LAM
1
;
Chi-Kong LAI
;
Chun-Bong CHOW
;
Sui-Fan TONG
;
Yuet-Ping YUEN
;
Yuen-Fun MAK
;
Yan-Wo CHAN
Author Information
1. Department of Chemical Pathology, the Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. ching-wanlam@cuhk.edu.hk
- Publication Type:Case Reports
- MeSH:
Asian Continental Ancestry Group;
genetics;
Carnitine Acyltransferases;
deficiency;
genetics;
China;
Founder Effect;
Humans;
Infant, Newborn;
Male;
Mutation;
Sudden Infant Death;
genetics
- From:
Chinese Medical Journal
2003;116(7):1110-1112
- CountryChina
- Language:English