A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria

Journal of Lipid Research

Volumn 38, Issue 11, 1997, Pages 2303-2313

  Casals, Núria ^a   Pié, Juan ^b   Casale, Cesar H ^a,f   Zapater, Núria ^g   Ribes, Antonia ^c   Castro Gago, Manuel ^d   Rodriguez Segade, Santiago ^d   Wanders, Ronald J R ^e   Hegardt, Fausto G ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b UNIVERSITY OF ZARAGOZA   (Spain)

^c Institute of Clinical Biochemistry   (Spain)

^d General Hospital of Galicia   (Spain)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f DEPARTAMENTO DE QUÍMICA   (Argentina)

^g NONE

Author keywords

3 hydroxy 3 methylglutaric aciduria; Exon skipping; HMG CoA lyase deficiency; Ketone bodies; Leucine metabolism; Two base pair deletion

Indexed keywords

3 HYDROXY 3 METHYLGLUTARIC ACID;

ACIDURIA; AMINO ACID METABOLISM; ARTICLE; CASE REPORT; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; HUMAN CELL; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID SEQUENCE; BLOTTING, NORTHERN; BLOTTING, SOUTHERN; FEMALE; FIBROBLASTS; FRAMESHIFT MUTATION; HUMANS; MEGLUTOL; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; OXO-ACID-LYASES; POLYMERASE CHAIN REACTION; PROTEIN BIOSYNTHESIS; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 0030666635     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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