Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation

Human Mutation

Volumn 16, Issue 5, 2000, Pages 401-407

  Wang, Yuhuan ^a   Taroni, Franco ^b   Garavaglia, Barbara ^b   Longo, Nicola ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Cardiomyopathy; Carnitine deficiency; Carnitine transport; Fatty acid oxidation; OCTN2; SLC22A5

Indexed keywords

CARNITINE; GENE PRODUCT; PROTEIN OCTN2; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARDIOMYOPATHY; CARNITINE DEFICIENCY; CASE REPORT; CHO CELL; CLINICAL FEATURE; CONTROLLED STUDY; EUROPE; FATTY ACID OXIDATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HYPOGLYCEMIA; MISSENSE MUTATION; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

ANIMALS; CARNITINE; CARRIER PROTEINS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CHO CELLS; CRICETINAE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; GENETIC VECTORS; GENOTYPE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; ORGANIC CATION TRANSPORT PROTEINS; PHENOTYPE;

EID: 0033736393     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200011)16:5<401::AID-HUMU4>3.0.CO;2-J     Document Type: Article

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