A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

Human Mutation

Volumn 15, Issue 3, 2000, Pages 238-245

  Wang, Yuhuan ^a   Kelly, Michelle A ^a   Cowan, Tina M ^b   Longo, Nicola ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

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

Indexed keywords

AMINO ACID TRANSPORT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARNITINE DEFICIENCY; CASE REPORT; CHILD; FATTY ACID OXIDATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; BIOLOGICAL TRANSPORT; CARDIOMYOPATHY, DILATED; CARNITINE; CARRIER PROTEINS; CHILD; CHO CELLS; CONSANGUINITY; CRICETINAE; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FIBROBLASTS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; ORGANIC CATION TRANSPORT PROTEINS; PEDIGREE; POINT MUTATION;

CRICETINAE; CRICETULUS GRISEUS;

EID: 0034049311     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3     Document Type: Article

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