| pubmed-article:7789958 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7789958 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:7789958 | lifeskim:mentions | umls-concept:C0035687 | lld:lifeskim |
| pubmed-article:7789958 | lifeskim:mentions | umls-concept:C0268579 | lld:lifeskim |
| pubmed-article:7789958 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:7789958 | lifeskim:mentions | umls-concept:C1418304 | lld:lifeskim |
| pubmed-article:7789958 | lifeskim:mentions | umls-concept:C0012591 | lld:lifeskim |
| pubmed-article:7789958 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:7789958 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:7789958 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:7789958 | pubmed:dateCreated | 1995-7-26 | lld:pubmed |
| pubmed-article:7789958 | 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. | lld:pubmed |
| pubmed-article:7789958 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7789958 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7789958 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:7789958 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7789958 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7789958 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7789958 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7789958 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7789958 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7789958 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7789958 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:7789958 | pubmed:issn | 0340-6717 | lld:pubmed |
| pubmed-article:7789958 | pubmed:author | pubmed-author:TadaKK | lld:pubmed |
| pubmed-article:7789958 | pubmed:author | pubmed-author:NarisawaKK | lld:pubmed |
| pubmed-article:7789958 | pubmed:author | pubmed-author:IinumaKK | lld:pubmed |
| pubmed-article:7789958 | pubmed:author | pubmed-author:OhuraTT | lld:pubmed |
| pubmed-article:7789958 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7789958 | pubmed:volume | 95 | lld:pubmed |
| pubmed-article:7789958 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7789958 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:7789958 | pubmed:pagination | 707-8 | lld:pubmed |
| pubmed-article:7789958 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:meshHeading | pubmed-meshheading:7789958-... | lld:pubmed |
| pubmed-article:7789958 | pubmed:year | 1995 | lld:pubmed |
| pubmed-article:7789958 | pubmed:articleTitle | A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene. | lld:pubmed |
| pubmed-article:7789958 | pubmed:affiliation | Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. | lld:pubmed |
| pubmed-article:7789958 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7789958 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:7789958 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:7789958 | lld:pubmed |
