Linked Life Data

8244344

Source:http://linkedlifedata.com/resource/pubmed/id/8244344

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1994-1-5
pubmed:abstractText
Gaucher disease type III (GD) is found at a high frequency in northern Sweden. The contemporary Swedish index families are found in two geographically distinct clusters with the highest world-wide frequency of type III GD. A single T-to-C transition in exon 10 has previously been identified in patients from one of the two isolates and we report there the same mutation in the second isolate. Mutational analysis was combined with a genealogical reconstruction of 19 contemporary index families. Both clusters were traced back to two corresponding pairs of ancestors over a 9-13 generation span. Molecular studies show that the two clusters are compatible with a single founder who arrived in northern Sweden in or before the 16th century.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
92
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
513-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies.
pubmed:affiliation
Department of Clinical Genetics and Pediatrics, University Hospital, Uppsala, Sweden.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't