A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene

Molecular Genetics and Metabolism

Volumn 100, Issue 4, 2010, Pages 339-344

  Fukao, Toshiyuki ^a   Horikawa, Reiko ^b   Naiki, Yasuhiro ^b   Tanaka, Toju ^b   Takayanagi, Masaki ^c   Yamaguchi, Seiji ^d   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c CHIBA CHILDREN'S HOSPITAL   (Japan)

^d SHIMANE UNIVERSITY   (Japan)

Author keywords

Aberrant splicing; Exonic mutation; Inborn error of metabolism; Mitochondrial acetoacetyl CoA thiolase; SF2 ASF; Splice site selection

Indexed keywords

2 METHYL 3 HYDROXYBUTYRATE; ACETYL COENZYME A ACETYLTRANSFERASE; ACETYL COENZYME A ACYLTRANSFERASE; CARBOXYLIC ACID; COMPLEMENTARY DNA; GLYCINE DERIVATIVE; HYDROXYBUTYRIC ACID; ISOLEUCINE; KETONE; NUCLEOTIDE; UNCLASSIFIED DRUG; MUTANT PROTEIN;

ALLELE; ANAMNESIS; ANOREXIA; ARTICLE; ARTIFICIAL VENTILATION; BETA KETOTHIOLASE DEFICIENCY; CASE REPORT; CATABOLISM; CELL CULTURE; CLINICAL ASSESSMENT; CLINICAL FEATURE; COUGHING; DNA DETERMINATION; ENZYME ASSAY; ENZYME DEFICIENCY; EXON; FEMALE; FIBROBLAST; GENE MUTATION; GLUCOSE INFUSION; HUMAN; INBORN ERROR OF METABOLISM; INFANT; INTRON; KETOGENESIS; LABORATORY TEST; MITOCHONDRIAL GENE; MITOCHONDRION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PATIENT REFERRAL; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; SKIN BIOPSY; SUBSTITUTION LINE; URINALYSIS; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ENHANCER REGION; ENZYMOLOGY; GENETICS; HUMAN GENOME; IMMUNOBLOTTING; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

ACETYL-COA C-ACETYLTRANSFERASE; ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ENHANCER ELEMENTS, GENETIC; ENZYME ASSAYS; EXONS; FEMALE; GENOME, HUMAN; HUMANS; IMMUNOBLOTTING; INFANT; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION;

EID: 77954657584     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.03.012     Document Type: Article

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