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Pathology

Iris Schrijver

Publication Details

  • Identification of an intronic single nucleotide polymorphism leading to allele dropout during validation of a CDH1 sequencing assay: implications for designing polymerase chain reaction-based assays.

    Mullins FM, Dietz L, Lay M, Zehnder JL, Ford J, Chun N, Schrijver I. Genet Med. 2007; 9 (11): 752-60

    The CDH1 gene encodes the cell adhesion protein E-cadherin, and CDH1 germline mutations are associated with hereditary diffuse gastric cancer. Identification of individuals at high risk of developing diffuse gastric cancer affords the opportunity for endoscopic screening or elective prophylactic gastrectomy. We set out to develop a CDH1 sequencing assay for clinical use.

    PubMedID: 18007144

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