Linked Life Data

7682196

Source:http://linkedlifedata.com/resource/pubmed/id/7682196

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1993-5-11
pubmed:abstractText
Single cases of the four novel splice site mutations 1525-1 G-->A (intron 9), 3601-2 A-->G (intron 18), 3850-3 T-->G (intron 19), and 4374 + 1 G-->T (intron 23) were detected in the CFTR gene of cystic fibrosis patients of Indo-Iranian, Turkish, Polish, and German descent. The nucleotide substitutions at the +1, -1, and -2 positions all destroy splice sites and lead to severe disease alleles associated with features typical of gastrointestinal and pulmonary cystic fibrosis disease. The 3850-3 T-to-G change was discovered in a very mildly affected 33-year-old delta F508 compound heterozygote, suggesting that the T-to-G transversion at the less conserved -3 position of the acceptor splice site may retain some wildtype function.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:geneSymbol
CFTR
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
688-91
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.
pubmed:affiliation
Klinische Forschergruppe, Molekulare Pathologie der Mukoviszidose, Zentrum Biochemie, Hannover, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't