Linked Life Data

11446424

Source:http://linkedlifedata.com/resource/pubmed/id/11446424

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2001-7-11
pubmed:abstractText
Identification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counseling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region, including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously defined large alterations and (TG)mTn-M470V loci. This study revealed a total of 27 different mutations accounting for almost 60% of disease genes in the Turkish population. In this study, we also identified the haplotypes associated with 17 mutations and those associated with unknown mutations. The mutation spectrum of CF in Turkey and its associated haplotypes indicated the presence of a major Mediterranean component in the contemporary Turkish population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0018-7143
pubmed:author
pubmed:issnType
Print
pubmed:volume
73
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
191-203
pubmed:dateRevised
2011-4-18
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.
pubmed:affiliation
Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't