Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency

Molecular Genetics and Metabolism

Volumn 108, Issue 4, 2013, Pages 232-240

  Puisac, Beatriz ^a   Teresa Rodrigo, María Esperanza ^a   Arnedo, María ^a   Gil Rodríguez, María Concepción ^a   Pérez Cerdá, Celia ^b   Ribes, Antonia ^c   Pié, Ángeles ^a   Bueno, Gloria ^a   Gómez Puertas, Paulino ^b,d   Pié, Juan ^a  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^c INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^d Biomol Informatics SL   (Spain)

Author keywords

Alternative splicing; HMG CoA lyase deficiency; HMGCL; NAS; NMD

Indexed keywords

3 HYDROXY 3 METHYLGLUTARIC ACID; CYTOSINE; GUANINE; HYDROXYMETHYLGLUTARYL COENZYME A LYASE; MESSENGER RNA; PUROMYCIN; THYMINE;

ACIDURIA; ARTICLE; BIOINFORMATICS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; MISSENSE MUTATION; NEWBORN; NONSENSE MEDIATED MRNA DECAY; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SPLICING DEFECT; STOP CODON;

ACETYL-COA C-ACETYLTRANSFERASE; AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; CHILD, PRESCHOOL; CODON, NONSENSE; CODON, TERMINATOR; FEMALE; HUMANS; MUTATION, MISSENSE; NONSENSE MEDIATED MRNA DECAY; RNA SPLICING; SEQUENCE ANALYSIS, DNA;

EUKARYOTA;

EID: 84875279691     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.01.019     Document Type: Article

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