|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
1995-7-26
|
|
pubmed:abstractText |
Propionic acidemia is an inborn error of organic acid metabolism caused by a deficiency of propionyl Coenzyme A (CoA) carboxylase. cDNAs sequenced from a beta subunit deficient Japanese patient (no. 187) showed an in-frame 57-bp deletion in one allele. Genomic DNA analysis revealed a four-nucleotide deletion of bases 3 to 6 in the 3' intron adjacent to the deleted exon, which disrupted the consensus 5' splice signal and caused exon skipping. This deletion removed one-half of a tetranucleotide direct repeat at the splice junction and presumably resulted from slipped mispairing.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
0340-6717
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
95
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
707-8
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:7789958-Acyl Coenzyme A,
pubmed-meshheading:7789958-Base Sequence,
pubmed-meshheading:7789958-Carboxy-Lyases,
pubmed-meshheading:7789958-Female,
pubmed-meshheading:7789958-Humans,
pubmed-meshheading:7789958-Japan,
pubmed-meshheading:7789958-Metabolism, Inborn Errors,
pubmed-meshheading:7789958-Methylmalonyl-CoA Decarboxylase,
pubmed-meshheading:7789958-Molecular Sequence Data,
pubmed-meshheading:7789958-Mutation,
pubmed-meshheading:7789958-Propionic Acids,
pubmed-meshheading:7789958-RNA Splicing,
pubmed-meshheading:7789958-Repetitive Sequences, Nucleic Acid
|
|
pubmed:year |
1995
|
|
pubmed:articleTitle |
A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.
|
|
pubmed:affiliation |
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
