A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

Journal of Human Genetics

Volumn 48, Issue 1, 2003, Pages 8-13

  Smeets, Roel J P ^a   Smeitink, Jan A M ^a   Semmekrot, Ben A ^b   Scholte, Hans R ^c   Wanders, Ronald J A ^d   Van den Heuvel, Lambert P W J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Carnitine palmitoyltransferase II (CPT II); Mitochondrial oxidation; Molecular analysis; Prenatal diagnosis; Splice site mutation

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE II; CARNITINE TRANSLOCASE; CARRIER PROTEIN; COMPLEMENTARY DNA; DNA; LONG CHAIN FATTY ACID; MESSENGER RNA; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHORION VILLUS; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE TRANSFER; GENOME; HOMOZYGOSITY; HUMAN; INTRON; MALE; MEMBRANE BINDING; MITOCHONDRION; MORTALITY; NEWBORN; NEWBORN DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS; SPLICEOSOME;

CARNITINE O-PALMITOYLTRANSFERASE; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PRENATAL DIAGNOSIS; RNA SPLICE SITES; RNA, MESSENGER; SEQUENCE ANALYSIS, RNA;

INSERTION SEQUENCES;

EID: 0037278412     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380300001     Document Type: Article

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