| http://purl.uniprot.org/citations/11754114 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11754114 | http://www.w3.org/2000/01/rdf-schema#comment | "Familial Adenomatous Polyposis (FAP) is an autosomal dominant heritable disorder caused by germ-line mutations in the APC gene. To date, more than 300 germ-line mutations within this gene have been described. Using PCR, SSCP and DNA sequencing, we have identified a new mutation in the alternatively spliced region of exon 9 (1042C-->T), which results in a stop signal. This mutation manifested an aggressive form of FAP with onset of symptoms in one proband at age 17. Our results differ from reported exon 9 mutations in the spliced-out portion of the gene manifesting an attentuated form of FAP (AAPC) [Varesco et al 1994; van der Luijt et al. 1995; Curia et al. 1998; Young et al. 1998]. When analyzing this family, we encountered a mutant FAP gene which had undergone a second mutational event, a deletion. In addition to linkage analysis, both the occurrence of the two exon 9 mutation-carrier siblings, of which one is affected, harboring the same novel deletion in one generation of this family, and its absence in both parents indicates the existence of maternal germ-line mosaicism for cells bearing the latter second mutational event. Our study is only the second report of parental mosaicism in the APC gene."xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.9006"xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://purl.uniprot.org/core/author | "Davidson S."xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://purl.uniprot.org/core/author | "Amikam D."xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://purl.uniprot.org/core/author | "Rennert G."xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://purl.uniprot.org/core/author | "Eidelman S."xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://purl.uniprot.org/core/author | "Leshanski L."xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11754114 | http://purl.uniprot.org/core/name | "Hum Mutat"xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://purl.uniprot.org/core/pages | "83-84"xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://purl.uniprot.org/core/title | "Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC."xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://purl.uniprot.org/core/volume | "19"xsd:string |
| http://purl.uniprot.org/citations/11754114 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11754114 |
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