The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

Molecular Genetics and Metabolism

Volumn 96, Issue 4, 2009, Pages 201-207

  Greenberg, Cheryl R ^a   Dilling, Louise A ^a   Thompson, G Robert ^b   Seargeant, Lorne E ^c   Haworth, James C ^a   Phillips, Susan ^a   Chan, Alicia ^d   Vallance, Hilary D ^e   Waters, Paula J ^e   Sinclair, Graham ^e   Lillquist, Yolanda ^e   Wanders, Ronald J A ^f   Olpin, Simon E ^g  

^a UNIVERSITY OF MANITOBA   (Canada)

^b CADHAM PROVINCIAL LABORATORY   (Canada)

^c Diagnostic Services of Manitoba Inc   (Canada)

^d UNIVERSITY OF ALBERTA   (Canada)

^e CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

^g SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

CPT1 variant; Fatty acid oxidation; First Nations; Hypoglycemia; Inuit; Newborn screening

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE I; CARNITINE PALMITOYLTRANSFERASE IA P479L; UNCLASSIFIED DRUG;

ABORIGINE; ADULT; ARTICLE; CANADA; CLINICAL ARTICLE; CONTROLLED STUDY; CPT1 GENE; CPT2 GENE; FATTY ACID OXIDATION; FEMALE; GENE; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOGLYCEMIA; MALE; MITOCHONDRIAL RESPIRATION; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

ADULT; AMERICAN NATIVE CONTINENTAL ANCESTRY GROUP; AMINO ACID SUBSTITUTION; CANADA; CARNITINE O-PALMITOYLTRANSFERASE; FEMALE; FIBROBLASTS; HUMANS; INFANT, NEWBORN; MALE; OXIDATION-REDUCTION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY;

EID: 61849127281     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.12.018     Document Type: Article

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