Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency

Human Mutation

Volumn 24, Issue 4, 2004, Pages 312-320

  Iacobazzi, Vito ^a   Invernizzi, Federica ^b   Baratta, Silvia ^b   Pons, Roser ^c   Chung, Wendy ^c   Garavaglia, Barbara ^b   Dionisi Vici, Carlo ^d   Ribes, Antonia ^e   Parini, Rossella ^f   Huertas, Maria Dolores ^g   Roldan, Susana ^h   Lauria, Graziantonio ^a   Palmieri, Ferdinando ^a   Taroni, Franco ^b  

^a UNIVERSITY OF BARI   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c Columbia University ^*  (United States)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e Institut de Bioquimica Clinica Barcelona   (Spain)

^f SAN GERARDO HOSPITAL   (Italy)

^g HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^h HOSPITAL JUAN RAMÓN JIMÉNEZ   (Spain)

Author keywords

Cardiomyopathy; Fatty acids; Metabolic disease; Mitochondria; Mutation analysis; SLC25A20

Indexed keywords

ACYLCARNITINE CARNITINE TRANSLOCASE; CARNITINE; CARNITINE ACYLTRANSFERASE; GLUCOSE; MEDIUM CHAIN FATTY ACID; PROPRANOLOL; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; CARBOHYDRATE DIET; CARDIOMYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CORRELATION ANALYSIS; DIET SUPPLEMENTATION; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME MECHANISM; EXON; FATTY ACID TRANSPORT; FEMALE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; INFANT; INTRON; LIPID OXIDATION; LIVER FAILURE; LOW FAT DIET; MALE; MISSENSE MUTATION; MITOCHONDRION; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RNA SPLICING; SLC25A20 GENE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CARNITINE ACYLTRANSFERASES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ESCHERICHIA COLI; EXONS; FATAL OUTCOME; FATTY ACIDS; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INFANT, NEWBORN; INTRONS; ITALY; LIPID METABOLISM, INBORN ERRORS; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NORTH AMERICA; OXIDATION-REDUCTION; POINT MUTATION; RECOMBINANT FUSION PROTEINS; RNA SPLICE SITES; SEQUENCE DELETION; SPAIN; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 5044224205     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20085     Document Type: Article

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