Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene

Journal of Neuroscience Research

Volumn 65, Issue 6, 2001, Pages 591-594

  Surendran, Sankar ^a   Sacksteder, Katherine A ^b   Gould, Stephen J ^b   Coldwell, James G ^c   Rady, Peter L ^a   Tyring, Stephan K ^a   Matalon, Reuben ^a  

^a UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF OKLAHOMA   (United States)

Author keywords

Enzyme activity; Malonic aciduria; MCD; Protein expression; Splice mutation

Indexed keywords

CARBOXYLYASE; DNA; FATTY ACID; GENE PRODUCT; MALONYL COENZYME A; MALONYL COENZYME A DECARBOXYLASE; MESSENGER RNA; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BINDING SITE; BRAIN METABOLISM; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FATTY ACID METABOLISM; FATTY ACID SYNTHESIS; GENE AMPLIFICATION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; MUSCLE HYPOTONIA; MUSCLE METABOLISM; NEWBORN DEATH; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR RETARDATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SPLICEOSOME; WESTERN BLOTTING;

BASE SEQUENCE; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CARBOXY-LYASES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FATTY ACIDS; GENES; HOMOZYGOTE; HUMANS; INTRONS; MALONYL COENZYME A; MUTATION; RNA SPLICE SITES; RNA, MESSENGER;

EID: 0035884783     PISSN: 03604012     EISSN: None     Source Type: Journal    
DOI: 10.1002/jnr.1189     Document Type: Article

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