A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene

Molecular Genetics and Metabolism

Volumn 72, Issue 2, 2001, Pages 115-121

  Nakamura, Kozue ^a   Fukao, Toshiyuki ^a   Perez Cerda, Celia ^b   Luque, Cristobal ^c   Song, Xiang Qian ^a   Naiki, Yasuhiro ^a   Kohno, Yoshinori ^d   Ugarte, Magdalena ^b   Kondo, Naomi ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Centro De Diagnostico De Enfermedades Moleculares   (Spain)

^c HOSPITAL INFANTA ELENA   (Spain)

^d Nagara National Hospital   (Japan)

Author keywords

Aberrant splicing; Exonic mutation; Inborn error of metabolism; Mitochondrial acetoacetyl CoA thiolase; Splice site selection

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME DEFICIENCY; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; INTRON; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS;

EID: 0035715779     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3125     Document Type: Article

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