Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

Human Mutation

Volumn 11, Issue 5, 1998, Pages 377-386

  Wataya, Kaoru ^a   Akanuma, Jun ^a   Cavadini, Patrizia ^b   Aoki, Yoko ^a   Kure, Shigeo ^a   Invernizzi, Federica ^b   Yoshida, Ichiro ^c   Kira, Jun Ichi ^d   Taroni, Franco ^b   Matsubara, Yoichi ^a   Narisawa, Kuniaki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Laboratory of Cellular Pathology   (Italy)

^c KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d KYUSHU UNIVERSITY   (Japan)

Author keywords

Carnitine palmitoyltransferase II deficiency; Fatty acid oxidation; Missense mutation; Polymorphism

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; CYSTEINE; GLUTAMIC ACID; LYSINE; MUTANT PROTEIN; PHENYLALANINE; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL STRAIN COS1; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; INFANT; JAPAN; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; ALLELES; ANIMALS; CARNITINE O-PALMITOYLTRANSFERASE; CHILD; COS CELLS; DNA, COMPLEMENTARY; FEMALE; HAPLOTYPES; HETEROZYGOTE; HUMANS; INFANT; JAPAN; LIPID METABOLISM, INBORN ERRORS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

RAPHIA FRATER;

EID: 7144227283     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E     Document Type: Article

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