Two α subunit donor splice site mutations cause human trifunctional protein deficiency

Journal of Clinical Investigation

Volumn 95, Issue 5, 1995, Pages 2076-2082

  Brackett, Jeffrey C ^a   Sims, Harold F ^a   Rinaldo, Piero ^b   Shapiro, Scott ^a   Powell, Cynthia K ^a   Bennett, Michael J ^c   Strauss, Arnold W ^a  

^a ST LOUIS CHILDREN S HOSPITAL   (United States)

^b YALE UNIVERSITY   (United States)

^c CHILDREN S MEDICAL CENTER   (United States)

Author keywords

fatty acid metabolism; inborn error; mitochondria; sudden death; oxidation

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; COMPLEMENTARY DNA; MESSENGER RNA;

ALPHA CHAIN; ARTICLE; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; FATTY ACID OXIDATION; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MYOPATHY; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REYE SYNDROME; SKIN FIBROBLAST; SUDDEN INFANT DEATH SYNDROME;

EID: 0028956322     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI117894     Document Type: Article

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