[go: up one dir, main page]

Navarro-Fernández et al., 2016 - Google Patents

Antithrombin Dublin (p. Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency

Navarro-Fernández et al., 2016

Document ID
16367488575674799121
Author
Navarro-Fernández J
de la Morena-Barrio M
Padilla J
Miñano A
Bohdan N
Águila S
Martínez-Martínez I
Sevivas T
De Cos C
Fernández-Mosteirín N
Llamas P
Asenjo S
Medina P
Souto J
Overvad K
Kristensen S
Corra J
Vicente V
Publication year
Publication venue
Thrombosis and haemostasis

External Links

Snippet

The key haemostatic role of antithrombin and the risk of thrombosis associated with its deficiency support that the low incidence of antithrombin deficiency among patients with thrombosis might be explained by underestimation of this disorder. It was our aim to identify …
Continue reading at www.thieme-connect.com (other versions)

Classifications

    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
    • G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
    • G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
    • C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/90—Enzymes; Proenzymes
    • G01N2333/914—Hydrolases (3)
    • G01N2333/948—Hydrolases (3) acting on peptide bonds (3.4)
    • G01N2333/95—Proteinases, i.e. endopeptidases (3.4.21-3.4.99)
    • G01N2333/964—Proteinases, i.e. endopeptidases (3.4.21-3.4.99) derived from animal tissue
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Similar Documents

Publication Publication Date Title
Navarro-Fernández et al. Antithrombin Dublin (p. Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency
Bafunno et al. Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema
Duga et al. Congenital factor XI deficiency: an update
Cooper et al. The phenotypic and genetic assessment of antithrombin deficiency
Makris et al. Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S
Ten Kate et al. Protein S deficiency: a clinical perspective
Riddell et al. Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor
US11185573B2 (en) Allelic variants of human factor VIII
Pezeshkpoor et al. Identification and functional characterization of a novel F5 mutation (Ala512Val, FVBonn) associated with activated protein C resistance
Repesse et al. Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development
Millar et al. Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations
Ruiz-Delgado et al. Primary thrombophilia in Mexico XII: miscarriages are more frequent in people with sticky platelet syndrome
Zhou et al. An enzyme immunoassay of ADAMTS13 distinguishes patients with thrombotic thrombocytopenic purpura from normal individuals and carriers of ADAMTS13 mutations
Fischer et al. Prevalence of hereditary antithrombin mutations is higher than estimated in patients with thrombotic events
Izumi et al. Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain
Woods et al. Identification of p. W246L as a novel mutation in the GP1BA gene responsible for platelet-type von Willebrand disease
Alhenc-Gelas et al. Genotype–phenotype relationships in a large french cohort of subjects with inherited protein C deficiency
Cumming et al. The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema
Baiges et al. Congenital antithrombin deficiency in patients with splanchnic vein thrombosis
Awidi et al. Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations
Orlando et al. Antithrombin p. Thr147Ala: the first founder mutation in people of African origin responsible for inherited antithrombin deficiency
Lopez-Herrera et al. Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia
Luo et al. Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His
Sun et al. Pathogenicity analysis of variations and prenatal diagnosis in a hereditary coagulation factor XIII deficiency family
Goodeve et al. Genetics of haemostasis