Linked Life Data

12175783

Source:http://linkedlifedata.com/resource/pubmed/id/12175783

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2002-8-16
pubmed:databankReference
pubmed:abstractText
Ornithine transcarbamylase (OTC, EC 2.1.3.3) deficiency (OTCD; OMIM #311250) is known to be genetically very heterogeneous, with many cases occurring de novo, due to an exceptional instability of the OTC gene. We report a new G > T substitution in the first nucleotide of intron 2 and we describe also a novel SNP (IVS8 + 35 nt: G > T) with very convenient frequencies (62%/38%) for its use as an extra tool for OTCD diagnosis in cases of suspected deletions.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1096-7192
pubmed:author
pubmed:issnType
Print
pubmed:volume
76
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
68-70
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.
pubmed:affiliation
IPA TIMUP, Porto, Portugal. lazevedo@ipatimup.pt
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't