Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

Human Genetics

Volumn 105, Issue 1-2, 1999, Pages 157-161

  Vaz, Frédéric M ^a   Scholte, Hans R ^b   Ruiter, Jos ^a   Hussaarts Odijk, Lidia M ^b   Rodrigues Pereira, Rob ^c   Schweitzer, Susanne ^d   De Klerk, Johannis B C ^e   Waterham, Hans R ^a   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c St Clara Hospital   (Netherlands)

^d HANNOVER MEDICAL SCHOOL   (Germany)

^e SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; CARNITINE; COMPLEMENTARY DNA; CYSTEINE; TYROSINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CARNITINE DEFICIENCY; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; FAILURE TO THRIVE; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC TRANSFECTION; HOMOZYGOTE; HUMAN; HYPERAMMONEMIA; HYPOGLYCEMIA; INFANT; MALE; MISSENSE MUTATION; MYOPATHY; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; STOP CODON;

EID: 0032765065     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900105     Document Type: Article

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