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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2006-12-25
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pubmed:abstractText |
Intestinal neurofibromatosis (Online Mendelian inheritance in Man database number 162220) is an alternate form of neurofibromatosis. Patients present with neurofibromas limited to the intestine in the absence of any other typical features of NF1 and NF2. At present, the molecular basis of intestinal neurofibromatosis remains elusive. The aim of the present study was to find the gene responsible for intestinal neurofibromatosis and to characterize functionally the mutation.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0016-5085
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pubmed:author |
pubmed-author:BremsHildeH,
pubmed-author:CoolsJanJ,
pubmed-author:Debiec-RychterMariaM,
pubmed-author:HimpensJacquesJ,
pubmed-author:LegiusEricE,
pubmed-author:MarynenPeterP,
pubmed-author:MentensNicoleN,
pubmed-author:SchöffskiPatrickP,
pubmed-author:SciotRafR,
pubmed-author:de RaedtThomasT,
pubmed-author:de WeverIvoI
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pubmed:issnType |
Print
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pubmed:volume |
131
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1907-12
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17087943-Adult,
pubmed-meshheading:17087943-Aged,
pubmed-meshheading:17087943-Cells, Cultured,
pubmed-meshheading:17087943-DNA,
pubmed-meshheading:17087943-Female,
pubmed-meshheading:17087943-Gastrointestinal Stromal Tumors,
pubmed-meshheading:17087943-Gene Expression Regulation,
pubmed-meshheading:17087943-Humans,
pubmed-meshheading:17087943-Intestinal Diseases,
pubmed-meshheading:17087943-Male,
pubmed-meshheading:17087943-Middle Aged,
pubmed-meshheading:17087943-Mutation,
pubmed-meshheading:17087943-Neurofibromatoses,
pubmed-meshheading:17087943-Neurofibromatosis 1,
pubmed-meshheading:17087943-Pedigree,
pubmed-meshheading:17087943-Proto-Oncogene Proteins c-kit,
pubmed-meshheading:17087943-Receptor, Platelet-Derived Growth Factor alpha
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pubmed:year |
2006
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pubmed:articleTitle |
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.
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pubmed:affiliation |
Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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