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D R Linfert, W N Rezuke, G J Tsongalis
Thromboembolic episodes are common events and affect approximately one in 1,000 persons annually. Pulmonary embolism alone accounts for 50,000 to 100,000 deaths per year in the United States with > 50% of those being elderly persons. Resistance to activated protein C is the most common inherited disorder associated with hereditary thrombophilia. A missense mutation has been identified in the gene coding for coagulation factor V (codon 506) which renders this procoagulant factor resistant to inactivation by activated protein C resulting in an increased risk for venous thrombosis...
September 1998: Connecticut Medicine
S Takenoshita, A Mogi, H Osawa, H Sunaga, H Kakegawa, M Tani, N Morinaga, R Kato, K Hagiwara, Y Nagamachi
Mutations in the transforming growth factor beta type II receptor (TGFbetaRII) gene have been detected in several human cancers that represent the phenotype of genomic instability. To establish a basis for diagnosis of cancer patients, we previously determined the exon-intron organization of the TGFbetaRII gene. The results indicated that TGFbetaRII protein is encoded by 567 codons in 7 exons. In this study, we further determined the nucleotide sequences surrounding these 7 exons and designed 8 sets of intron-based primers to examine the entire coding region of the TGFbetaRII gene...
January 1998: Oncology Reports
J M Van Tornout, C H Spruck, A Shibata, C Schmutte, M Gonzalez-Zulueta, P W Nichols, P T Chandrasoma, M C Yu, P A Jones
Mutatins of the p53 tumor suppressor gene are rare in nasopharyngeal carcinoma (NPC) patients who reside in high-risk areas, such as Southeastern China. Among this high-risk group, a pre-existing infection with the EBV and consumption of Cantonese salted fish are closely associated with NPC. We investigated the prevalence of p53 mutations in 28 primary NPC specimens from white (including Hispanic) and African-American patients in Los Angeles, who are at low risk for NPC. Using PCR-based single-strand conformational polymorphism and direct sequencing, we found four mutations (14%) in exons 5-8 of the p53 gene in four patients...
July 1997: Cancer Epidemiology, Biomarkers & Prevention
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