Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-9-23
pubmed:abstractText
A cluster of Friedreich's ataxia patients has been previously investigated in two neighbouring villages of the Paphos district of Cyprus. Molecular genetic studies revealed that all patients had the most common mutation, a homozygous expansion of the GAA triplet repeat in the first intron of the frataxin gene. The present study is aimed at estimating the mutation carrier frequency in the broader area of Paphos. Overall, 1050 individuals originating from the Paphos district took part in the programme. Blood samples were collected for a period of 18 months, on a voluntary basis, after signing a consent form, and analysis of the GAA triplet repeat was performed. The frequency of mutation carriers in the broader area of the Paphos district, and excluding the two neighbouring cluster villages, is estimated to be high. We recommend that an organized prevention programme be implemented to cover the population from this region.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1128-2460
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
24-6
pubmed:dateRevised
2011-3-1
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.
pubmed:affiliation
The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
pubmed:publicationType
Journal Article