Linked Life Data

10854117

Source:http://linkedlifedata.com/resource/pubmed/id/10854117

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-9-1
pubmed:abstractText
Several point mutations in mitochondrial DNA (mtDNA) have been shown to cause sensorineural hearing impairment (SNHI), but the frequency of these mutations among patients is not known. We identified 117 patients with possible matrilineal SNHI from population-based registers and found the 3243A > G mutation to be present in 4.3% and 1555A > G in 2.6%, while 7445T > C, 7472insC and 8344A > G were absent. Patients with 3243A > G and 1555A > G were clinically distinct. The prevalence of 1555A > G in the general adult population was estimated to be at least 4.7/100,000, but these and previous data suggest that the figure may vary between populations. Screening for mtDNA mutations is worthwhile in connection with the diagnosis of SNHI.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
315-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment.
pubmed:affiliation
Department of Neurology, University of Oulu, Finland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't