Hereditary Thrombophilia: Identification of Nonsense and Missense Mutations in the Protein C Gene

The structure of the gene for protein C, an anticoagulant serine protease, was analyzed in 29 unrelated patients with hereditary thrombophilia and protein C deficiency. Gene deletion(s) or gross rearrangement(s) was not demonstrable by Southern blot hybridization to cDNA probes. However, two unrelat...

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Veröffentlicht in:	Proc. Natl. Acad. Sci. U.S.A.; (United States) 1987-05, Vol.84 (9), p.2829-2832
Hauptverfasser:	Romeo, Giovanni, Hassan, H. Jane, Staempfli, Susanne, Roncuzzi, Laura, Cianetti, Luciano, Leonardi, Antonella, Vicente Vicente, Mannucci, Pier Mannuccio, Bertina, Rogier, Peschle, Cesare, Cortese, Riccardo
Format:	Artikel
Sprache:	eng
Schlagworte:	550401 - Genetics- Tracer Techniques Amino Acid Sequence BASIC BIOLOGICAL SCIENCES BETA DECAY RADIOISOTOPES BETA-MINUS DECAY RADIOISOTOPES Biological and medical sciences Classical genetics, quantitative genetics, hybrids CLONING Codons Complementary DNA DAYS LIVING RADIOISOTOPES DISEASES DNA DNA SEQUENCING DNA-CLONING ENZYMES Exons Fundamental and applied biological sciences. Psychology GENE MUTATIONS GENES Genetic mutation Genetics of eukaryotes. Biological and molecular evolution HEMIC DISEASES HEREDITARY DISEASES Heterozygotes Human Humans HYDROLASES Introns ISOTOPES LIGHT NUCLEI Missense mutation Mutation MUTATIONS NUCLEI NUCLEIC ACIDS ODD-ODD NUCLEI ORGANIC COMPOUNDS PATHOGENESIS PATIENTS PEPTIDE HYDROLASES PHENOTYPE PHOSPHORUS 32 PHOSPHORUS ISOTOPES Protein C - genetics Protein C Deficiency RADIOISOTOPES RECOMBINANT DNA Reference Values RNA - genetics RNA, Antisense SERINE PROTEINASES STRUCTURAL CHEMICAL ANALYSIS Thrombophilia Thrombophlebitis - blood Thrombophlebitis - genetics
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