Linked Life Data

17213840

Source:http://linkedlifedata.com/resource/pubmed/id/17213840

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2007-2-22
pubmed:databankReference
pubmed:abstractText
The relatively frequent existence of an autosomal recessive disease in an isolated population suggests a founder effect. However, in many cases the high frequency is due to more than one mutation in either one or several genes. Several possibilities have been raised to explain these findings: a chance phenomenon, migration of families with affected patients or digenic inheritance. Although each of these possibilities may be responsible for a few of the cases, in most they are very improbable explanations. A selective advantage may explain most of the observations even if it is difficult to prove.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
272-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Multiple mutations responsible for frequent genetic diseases in isolated populations.
pubmed:affiliation
Department of Genetic Community, Public Health Services, Health Ministry and Hebrew University, Jerusalem, Israel. joelz@cc.huji.ac.il
pubmed:publicationType
Journal Article, Review