Linked Life Data

1376297

Source:http://linkedlifedata.com/resource/pubmed/id/1376297

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1992-7-16
pubmed:abstractText
Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and Southern hybridization revealed that the proportion of the delta F508 mutation was 58% in this population, and that the frequency of the B (i.e., KM19/XV2c [1-2]) haplotype was increased in both delta F508 and non-delta F508 CF chromosomes (98% and 46%, respectively). These results support the view that the trans-European gradient of the delta F508 frequency is of a geographical rather than of an ethnic origin, and that in Slavonic populations, there exists an as yet unidentified but frequent CF mutation other than delta F508, associated with the B haplotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
89
pubmed:geneSymbol
CFTR
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
305-6
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients.
pubmed:affiliation
Institute of Molecular Physiology and Genetics SAS, Bratislava, Czechoslovakia.
pubmed:publicationType
Journal Article