Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency

Journal of Lipid Research

Volumn 37, Issue 11, 1996, Pages 2420-2432

  Buesa, Carlos ^a   Pié, Juan ^a,d   Barceló, Ana ^b   Casals, Núria ^a   Mascaró, Cristina ^a   Casale, Cesar H ^a   Haro, Diego ^a   Duran, Marinus ^c   Smeitink, Jan A M ^c,e   Hegardt, Fausto G ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY OF ZARAGOZA   (Spain)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

donor splice site; exon skipping; HMG CoA lyase deficiency; ketone bodies; leucine metabolism

Indexed keywords

3 HYDROXY 3 METHYLGLUTARIC ACID; 3 HYDROXY 3 METHYLGLUTARYL COENZYME A; AMINO ACID; DINUCLEOTIDE; DNA; LYASE; MESSENGER RNA; NUCLEOTIDE; OLIGONUCLEOTIDE; RNA;

AGAR GEL ELECTROPHORESIS; ALLELE; ARTICLE; AUTORADIOGRAPHY; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE; HUMAN; INTRON; MALE; NEWBORN; NORTHERN BLOTTING; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; STOP CODON;

BASE SEQUENCE; BLOTTING, SOUTHERN; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MOLECULAR SEQUENCE DATA; OXO-ACID-LYASES; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SEQUENCE DELETION;

EID: 12644289290     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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