Linked Life Data

8957181

Source:http://linkedlifedata.com/resource/pubmed/id/8957181

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1997-3-11
pubmed:databankReference
pubmed:abstractText
We screened a total of 100 unrelated patients with neurofibromatosis type 1 (NF1) for mutations on exons 5 and 8 of the NF1 gene using temperature gradient gel electrophoresis (TGGE). Careful interpretation of exon 5 TGGE patterns was necessary due to interference by an exonic polymorphism. Three novel mutations were identified: a stop mutation in exon 5 (Q239X) caused by a C-->T transition at cDNA nucleotide position 715, a transition at the invariant G of the splice acceptor site in the intron 4c (G655-1A), and a transversion at the invariant G of the splice donor site in intron 8 (G1185 + 1T). Analysis of mRNA revealed the predicted abnormal splice products. While skipping of exon 5 causes a shift in the reading frame with a premature stop codon downstream in the middle of exon 6, skipping of exon 8 leads to an in-frame deletion with the predicted protein product being shortened by 41 amino acids.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0173-0835
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1559-63
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.
pubmed:affiliation
Institut für Medizinische Genetik, Universitätsklinikum Charité, Berlin, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't