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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2000-1-20
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pubmed:abstractText |
Hereditary non-polyposis colorectal cancer (HNPCC) is considered to be determined by germline mutations in the mismatch repair (MMR) genes, especially MSH2 and MLH1. While screening for mutations in these two genes in HNPCC portuguese families, 3 previously unreported MSH2 and 1 MLH1 mutations have been identified in families meeting strict Amsterdam criteria. Hum Mutat 15:116, 2000.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Adaptor Proteins, Signal Transducing,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/MLH1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MSH2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MutS Homolog 2 Protein,
http://linkedlifedata.com/resource/pubmed/chemical/Neoplasm Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Proto-Oncogene Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1098-1004
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pubmed:author |
pubmed-author:AlmeidaSS,
pubmed-author:BaptistaMM,
pubmed-author:BizarroSS,
pubmed-author:BoavidaM GMG,
pubmed-author:CastedoSS,
pubmed-author:IsidroGG,
pubmed-author:LeitlCC,
pubmed-author:MarshallBB,
pubmed-author:MatosPP,
pubmed-author:RegateiroFF,
pubmed-author:SoaresJJ,
pubmed-author:VeigaII
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pubmed:copyrightInfo |
Copyright 2000 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
116
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:10612836-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:10612836-Base Pair Mismatch,
pubmed-meshheading:10612836-Base Sequence,
pubmed-meshheading:10612836-Carrier Proteins,
pubmed-meshheading:10612836-Colorectal Neoplasms, Hereditary Nonpolyposis,
pubmed-meshheading:10612836-DNA-Binding Proteins,
pubmed-meshheading:10612836-Humans,
pubmed-meshheading:10612836-Molecular Sequence Data,
pubmed-meshheading:10612836-MutS Homolog 2 Protein,
pubmed-meshheading:10612836-Mutation, Missense,
pubmed-meshheading:10612836-Neoplasm Proteins,
pubmed-meshheading:10612836-Nuclear Proteins,
pubmed-meshheading:10612836-Polymerase Chain Reaction,
pubmed-meshheading:10612836-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10612836-Portugal,
pubmed-meshheading:10612836-Proto-Oncogene Proteins
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pubmed:year |
2000
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pubmed:articleTitle |
Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.
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pubmed:affiliation |
Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal. cgh@insarj.pt
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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