Linked Life Data

7704557

Source:http://linkedlifedata.com/resource/pubmed/id/7704557

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1995-5-11
pubmed:abstractText
Mutations in some exons of the RET proto-oncogene were recently observed in Hirschsprung patients. Using DNA polymorphisms and single-strand conformation polymorphism analysis for the whole coding sequence of the RET proto-oncogene, 82 unrelated Hirschsprung patients were screened systematically. A total of 4 complete deletions of RET and 12 point mutations were identified, each present in no more than one patient and distributed along the whole gene. De novo mutations could be documented in 4 patients. Southern blot and fluorescence in situ hybridization analysis carried out in a restricted number of patients did not reveal any deletion of RET. The low efficiency in detecting mutations of RET in Hirschsprung patients (20%) may originate mainly from genetic heterogeneity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
2
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
272-80
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.
pubmed:affiliation
Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't