Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death

Chinese Medical Journal

Volumn 116, Issue 7, 2003, Pages 1110-1112

  Lam, Ching Wan ^a   Lai, Chi Kong ^b   Chow, Chun Bong ^b   Tong, Sui Fan ^a   Yuen, Yuet Ping ^b   Mak, Yuen Fun ^b   Chan, Yan Wo ^b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b PRINCESS MARGARET HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARBOXYLIC ACID; CARNITINE; CARRIER PROTEIN; DICARBOXYLIC ACID; GENOMIC DNA; LONG CHAIN FATTY ACID;

ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; CHINESE; ENZYME DEFICIENCY; ETHNIC GROUP; FATTY ACID OXIDATION; GENE MUTATION; HUMAN; HUMAN TISSUE; ION PAIR CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; NEWBORN; PROTEIN PROCESSING; SUDDEN DEATH; URINALYSIS;

ASIAN CONTINENTAL ANCESTRY GROUP; CARNITINE ACYLTRANSFERASES; CHINA; FOUNDER EFFECT; HUMANS; INFANT, NEWBORN; MALE; MUTATION; SUDDEN INFANT DEATH;

EID: 0042060948     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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