Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency

Clinical Genetics

Volumn 73, Issue 5, 2008, Pages 496-501

  Yasuno, Tetsuhiko ^a   Kaneoka, H ^a   Tokuyasu, T ^a   Aoki, J ^b   Yoshida, S ^c   Takayanagi, M ^d   Ohtake, E ^e   Kanazawa, M ^f   Ogawa, A ^g   Tojo, K ^h   Saito, T ^a  

^a FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^c Omihachiman Community Medical Center   (Japan)

^d CHIBA CHILDREN'S HOSPITAL   (Japan)

^e SAITAMA MEDICAL UNIVERSITY   (Japan)

^f Chiba Kaihin Municipal Hospital   (Japan)

^g CHIBA UNIVERSITY   (Japan)

^h SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Carnitine palmitoyltransferase; Deficiency; Frame shift; Japanese; p.F383Y mutation; Point mutation; Rhabdomyolysis

Indexed keywords

ARGININE; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE 2; CYSTEINE; CYTOSINE; GENE PRODUCT; LEUCINE; PHENYLALANINE; THYMINE; TYROSINE; UNCLASSIFIED DRUG; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY; CAUCASIAN; CELL LINE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; DONOR; ENZYME DEFICIENCY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; JAPANESE; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CARNITINE O-PALMITOYLTRANSFERASE; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; LIPID METABOLISM, INBORN ERRORS; MALE; MUTATION;

EID: 42049103074     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.00986.x     Document Type: Article

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