Linked Life Data

9439676

Source:http://linkedlifedata.com/resource/pubmed/id/9439676

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1998-2-6
pubmed:abstractText
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial cancer syndrome. The responsible gene MEN1 has recently been isolated, and its germline mutations have been identified in affected individuals in the United States, Canada and Europe. We screened for MEN1 mutations by direct nucleotide sequencing of all protein-coding regions, and identified five distinct germline mutations in five among six Japanese kindreds with familial MEN1 or familial hyperparathyroidism. The mutations were dispersed across the gene. These findings suggest that, because of the absence of an obvious founder effect, the entire MEN1 gene region should be examined for germline mutations in the probands of MEN1 and related syndromes in Japanese families.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0910-5050
pubmed:author
pubmed:issnType
Print
pubmed:volume
88
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1029-32
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Germline mutations of the MEN1 gene in Japanese kindred with multiple endocrine neoplasia type 1.
pubmed:affiliation
Growth Factor Division, National Cancer Center Research Institute, Tokyo.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't