A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

Molecular Genetics and Metabolism

Volumn 89, Issue 4, 2006, Pages 332-338

  Korman, Stanley H ^a,b   Pitt, James J ^b   Boneh, Avihu ^b,c   Dweikat, Imad ^d   Zater, Mokhtar ^e   Meiner, Vardiella ^a   Gutman, Alisa ^a   Brivet, Michèle ^e  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d Makassed Islamic Hospital   (Israel)

^e BICÊTRE HOSPITAL   (France)

Author keywords

Carnitine acylcarnitine carrier; Carnitine metabolism; Mitochondrial fatty acid oxidation; Mutation analysis; Newborn; Post mortem diagnosis; Prenatal diagnosis; Splice mutation

Indexed keywords

ACYLCARNITINE CARNITINE TRANSLOCASE; AMINO ACID; COMPLEMENTARY DNA; ISOENZYME; PROTEIN; SLC25A20 PROTEIN; UNCLASSIFIED DRUG;

AGAR GEL ELECTROPHORESIS; ALLELE; ARAB; ARTICLE; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CASE REPORT; CONTROLLED STUDY; DNA EXTRACTION; DNA SPLICING; DOWNSTREAM PROCESSING; ENZYME ACTIVITY; ENZYME DEFICIENCY; ETHNIC DIFFERENCE; ETHNOLOGY; EXON; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; INTRON; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN MORTALITY; NUCLEOTIDE SEQUENCE; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

AMINO ACID METABOLISM, INBORN ERRORS; DNA, COMPLEMENTARY; FATAL OUTCOME; FEMALE; GENES, LETHAL; HUMANS; INFANT, NEWBORN; MEMBRANE TRANSPORT PROTEINS; MUTATION; RNA SPLICING; SEQUENCE ANALYSIS, DNA;

EID: 33750610864     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.06.009     Document Type: Article

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