Linked Life Data

11355484

Source:http://linkedlifedata.com/resource/pubmed/id/11355484

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2001-5-17
pubmed:abstractText
The aim of this study was to identify subjects with 35delG mutation of GJB2 gene as the most frequent genetic cause of deafness. Deaf patients receiving cochlear implantation at the ENT Clinic at University of Medical Sciences in Pozna? and their family members were recruited to the study. Peripheral blood lymphocytes DNA was amplified in allele-specific PCR and analysed for single strand conformation polymorphism (SSCP) to detect mutation at DFNB1 locus. 35delG mutation at both alleles was found at 42.9% of deaf patients and 29.4% of health relatives were found to be carrier of the mutation at one allele. The study is thought to be a first step in analysis of typical mutations in Polish deaf population.
pubmed:language
pol
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0030-6657
pubmed:author
pubmed:issnType
Print
pubmed:volume
55
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
79-84
pubmed:dateRevised
2007-12-28
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
[An attempt to identify the most frequent genomic mutations responsible for isolated deafness in patients after cochlear implantation].
pubmed:affiliation
Klinika Otolaryngologii Akademii Medycznej w Poznaniu.
pubmed:publicationType
Journal Article, English Abstract, Research Support, Non-U.S. Gov't