|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
2007-6-13
|
|
pubmed:abstractText |
Usher syndrome type 1 (USH1) is the leading cause of deafblindness. In most populations, many private mutations are distributed across the five known USH1 genes. We investigated patients from the French Canadian population of Quebec (approximately 6 million people) that descends from about 8,500 French settlers who colonized the St Lawrence River valley between 1608 and 1759. We hypothesized that founder mutations in USH1 genes exist in this population.
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-10704190,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-10930322,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-10973247,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-10973248,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-11090341,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-11138009,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-11139240,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-11398101,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-11487575,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-11524702,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-11810303,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-11857743,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-12588794,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-12630964,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-12702164,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-12711741,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-12786748,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-14569126,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-14968360,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-15537665,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-15578223,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-15660226,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-16143014,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-16255080,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-16679490,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-17174357,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-1952587,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-2239971,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-7870171,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17407589-9399808
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1465-6914
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
8
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
R47
|
|
pubmed:dateRevised |
2009-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:17407589-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:17407589-Alleles,
pubmed-meshheading:17407589-Canada,
pubmed-meshheading:17407589-Cohort Studies,
pubmed-meshheading:17407589-Founder Effect,
pubmed-meshheading:17407589-France,
pubmed-meshheading:17407589-Genetic Predisposition to Disease,
pubmed-meshheading:17407589-Haplotypes,
pubmed-meshheading:17407589-Heterozygote,
pubmed-meshheading:17407589-Humans,
pubmed-meshheading:17407589-Mutation,
pubmed-meshheading:17407589-Quebec,
pubmed-meshheading:17407589-Usher Syndromes
|
|
pubmed:year |
2007
|
|
pubmed:articleTitle |
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
|
|
pubmed:affiliation |
Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany. inga.ebermann@uk-koeln.de
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
