| pubmed-article:8957181 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8957181 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:8957181 | lifeskim:mentions | umls-concept:C1511790 | lld:lifeskim |
| pubmed-article:8957181 | lifeskim:mentions | umls-concept:C0085113 | lld:lifeskim |
| pubmed-article:8957181 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:8957181 | lifeskim:mentions | umls-concept:C0442726 | lld:lifeskim |
| pubmed-article:8957181 | lifeskim:mentions | umls-concept:C2936484 | lld:lifeskim |
| pubmed-article:8957181 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:8957181 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:8957181 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:8957181 | pubmed:dateCreated | 1997-3-11 | lld:pubmed |
| pubmed-article:8957181 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8957181 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8957181 | 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. | lld:pubmed |
| pubmed-article:8957181 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8957181 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8957181 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8957181 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8957181 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8957181 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:8957181 | pubmed:issn | 0173-0835 | lld:pubmed |
| pubmed-article:8957181 | pubmed:author | pubmed-author:HornDD | lld:pubmed |
| pubmed-article:8957181 | pubmed:author | pubmed-author:RobinsonP NPN | lld:pubmed |
| pubmed-article:8957181 | pubmed:author | pubmed-author:NürnbergPP | lld:pubmed |
| pubmed-article:8957181 | pubmed:author | pubmed-author:TinschertSS | lld:pubmed |
| pubmed-article:8957181 | pubmed:author | pubmed-author:BöddrichAA | lld:pubmed |
| pubmed-article:8957181 | pubmed:author | pubmed-author:BuskeAA | lld:pubmed |
| pubmed-article:8957181 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8957181 | pubmed:volume | 17 | lld:pubmed |
| pubmed-article:8957181 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8957181 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8957181 | pubmed:pagination | 1559-63 | lld:pubmed |
| pubmed-article:8957181 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:meshHeading | pubmed-meshheading:8957181-... | lld:pubmed |
| pubmed-article:8957181 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8957181 | pubmed:articleTitle | Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8. | lld:pubmed |
| pubmed-article:8957181 | pubmed:affiliation | Institut für Medizinische Genetik, Universitätsklinikum Charité, Berlin, Germany. | lld:pubmed |
| pubmed-article:8957181 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8957181 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8957181 | lld:pubmed |
