Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

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http://www.wikidata.org/entity/Q54466929
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancerCancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.A mutation in POLE predisposing to a multi-tumour phenotype.Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.MUTYH Associated Polyposis (MAP).Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers: results from a cohort of North-African Jews.Pathological features of colorectal carcinomas in MYH-associated polyposis.Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.Genetic testing in inherited polyposis syndromes - how and why?MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists.
P2860

Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

Item
http://www.wikidata.org/entity/Q54466929
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2006年の論文
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Novel findings in Swedish pati ...... and clinical characterization.
@en
Novel findings in Swedish pati ...... and clinical characterization.
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type
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Novel findings in Swedish pati ...... and clinical characterization.
@en
Novel findings in Swedish pati ...... and clinical characterization.
@nl
prefLabel
Novel findings in Swedish pati ...... and clinical characterization.
@en
Novel findings in Swedish pati ...... and clinical characterization.
@nl
P1433
P1476
P2093
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P31
P356
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P1433
P1476
Novel findings in Swedish pati ...... and clinical characterization
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921