Linked Life Data

11757579

Source:http://linkedlifedata.com/resource/pubmed/id/11757579

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2001-12-6
pubmed:abstractText
Thirteen Turkish patients with hereditary fructose intolerance (HFI) were screened for the three common mutations, A149P, A174D and N334K, in the aldolase B gene that have been detected frequently in European population. We found that nine of the patients carry the A149P mutation in both alleles, which corresponds to a frequency of about 55%. Single-strand conformation analysis of all coding exons of the gene was also performed to detect unknown mutations in four patients not carrying the three common mutations. No aberrant migration patterns were observed in these patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
523-6
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Mutation analysis in Turkish patients with hereditary fructose intolerance.
pubmed:affiliation
Hacettepe University School of Medicine, Department of Pediatrics, Ankara, Turkey. adursun@hacettepe.edu.tr
pubmed:publicationType
Journal Article