title: A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene.
abstract: A novel polymorphism (6376 G/T) in intron 7 (17) of the human PROC gene has been identified by direct DNA sequencing. Restriction analysis with the use of mutagenic primers indicate that the allele frequencies are 0.17 (allele T) and 0.83 (allele G), with a calculated heterozygosity of 28%.
authors.affiliation: Molecular Genetics Department, IRO Cancer Research Institute, Hospital Duran i Reynals, Barcelona, Spain.
authors.forename: J M
authors.initials: JM
authors.lastname: Soria
authors.forename: M
authors.initials: M
authors.lastname: Morell
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: N
authors.initials: N
authors.lastname: Sala
mesh_terms: D001483:Base Sequence; D015252:Deoxyribonucleases, Type II Site-Specific; D006801:Humans; D007438:Introns / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011486:Protein C / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013927:Thrombosis / Q000235:genetics
chemical_list: D011486:Protein C; C024669:endodeoxyribonuclease AluI; D015252:Deoxyribonucleases, Type II Site-Specific