Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings

Human Mutation

Volumn 12, Issue 2, 1998, Pages 83-88

  Song, Xiang Qian ^a   Fukao, Toshiyuki ^a   Watanabe, Hiroh ^a   Shintaku, Haruo ^b   Hirayama, Ken ^c   Kassovska Bratinova, Sacha ^d,e   Kondo, Naomi ^a   Mitchell, Grant A ^d  

^a GIFU UNIVERSITY   (Japan)

^b OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Izumi Municipal Hospital   (Japan)

^d UNIVERSITY OF MONTREAL   (Canada)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Inborn error of metabolism; Ketolysis; Mutation; Residual activity; Succinyl CoA:3 ketoacid CoA transferase

Indexed keywords

3 OXOACID COENZYME A TRANSFERASE; OXOACID;

ALLELE; ARTICLE; CASE REPORT; DIAGNOSTIC ACCURACY; DNA DETERMINATION; ENZYME ACTIVATION; ENZYME DEFICIENCY; FIBROBLAST; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INBORN ERROR OF METABOLISM; JAPAN; PRIORITY JOURNAL; TISSUE HOMOGENATE;

CELL LINE, TRANSFORMED; COENZYME A-TRANSFERASES; DNA, COMPLEMENTARY; FIBROBLASTS; GENES, RECESSIVE; HUMANS; JAPAN; LEUKOCYTES, MONONUCLEAR; POINT MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 0031801635     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:2<83::AID-HUMU2>3.0.CO;2-P     Document Type: Article

References (18)

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