[Bernard -Soulier syndrome]. 1992

V Vicente, and M J Sánchez, and J Rivera, and J M Moraleda
Unidad de Hematología-Hemoterapia, Hospital General Universitario, Murcia.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010973 Platelet Adhesiveness The process whereby PLATELETS adhere to something other than platelets, e.g., COLLAGEN; BASEMENT MEMBRANE; MICROFIBRILS; or other "foreign" surfaces. Adhesiveness, Platelet,Adhesivenesses, Platelet,Platelet Adhesivenesses
D010980 Platelet Membrane Glycoproteins Surface glycoproteins on platelets which have a key role in hemostasis and thrombosis such as platelet adhesion and aggregation. Many of these are receptors. PM-GP,Platelet Glycoprotein,Platelet Membrane Glycoprotein,PM-GPs,Platelet Glycoproteins,Glycoprotein, Platelet,Glycoprotein, Platelet Membrane,Glycoproteins, Platelet,Glycoproteins, Platelet Membrane,Membrane Glycoprotein, Platelet,Membrane Glycoproteins, Platelet,PM GP
D011956 Receptors, Cell Surface Cell surface proteins that bind signalling molecules external to the cell with high affinity and convert this extracellular event into one or more intracellular signals that alter the behavior of the target cell (From Alberts, Molecular Biology of the Cell, 2nd ed, pp693-5). Cell surface receptors, unlike enzymes, do not chemically alter their ligands. Cell Surface Receptor,Cell Surface Receptors,Hormone Receptors, Cell Surface,Receptors, Endogenous Substances,Cell Surface Hormone Receptors,Endogenous Substances Receptors,Receptor, Cell Surface,Surface Receptor, Cell
D005796 Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001324 Autoantigens Endogenous tissue constituents with the ability to interact with AUTOANTIBODIES and cause an immune response. Autoantigen,Autologous Antigen,Autologous Antigens,Self-Antigen,Self-Antigens,Antigen, Autologous,Antigens, Autologous,Self Antigen,Self Antigens
D001606 Bernard-Soulier Syndrome A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption. Giant Platelet Syndrome,Deficiency of Platelet Glycoprotein 1b,Glycoprotein Ib, Platelet, Deficiency Of,Platelet Glycoprotein 1b, Deficiency of,Platelet Glycoprotein Ib Deficiency,Von Willebrand Factor Receptor Deficiency,Bernard Soulier Syndrome,Platelet Syndromes, Giant,Syndrome, Bernard-Soulier,Syndrome, Giant Platelet,Syndromes, Giant Platelet
D016824 Antigens, Human Platelet Human alloantigens expressed only on platelets, specifically on platelet membrane glycoproteins. These platelet-specific antigens are immunogenic and can result in pathological reactions to transfusion therapy. Antigens, Platelet-Specific,Human Platelet Antigen,Human Platelet Antigens,Platelet Alloantigen,Platelet Alloantigens,Platelet-Specific Antigen,Platelet-Specific Antigens,Alloantigen, Platelet,Alloantigens, Platelet,Antigen, Human Platelet,Antigen, Platelet-Specific,Antigens, Platelet Specific,Platelet Antigen, Human,Platelet Antigens, Human,Platelet Specific Antigen,Platelet Specific Antigens

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