Search Results - "Grandinetti, Cristina"
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Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer
Published in Human mutation (01-08-2001)“…Several genes have been involved in the pathogenesis of hereditary breast/ovarian cancer (BOC), but mutations in the BRCA1 gene are by far the most recurrent…”
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Transcriptional regulation of the mismatch repair gene hMLH1
Published in Gene (19-09-2001)“…We have characterized the promoter region of the human gene coding for the MLH1 mismatch repair protein. The total transcriptional activity of the hMLH1…”
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A new L771L polymorphism in the BRCA1 gene frequently found in southern Italy
Published in Human mutation (1999)Get full text
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Hereditary nonpolyposis colorectal cancer: Identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria
Published in Human mutation (1998)“…Hereditary nonpolyposis colon cancer results from heritable defects in the MLH1, MSH2, PMS1 and PMS2 genes, which encode proteins involved in the mismatch…”
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Journal Article