alamut mutation interpretation software (BIOPOLIS SL)
90
Structured Review
BIOPOLIS SL
alamut mutation interpretation software
Alamut Mutation Interpretation Software, supplied by BIOPOLIS SL, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/alamut+mutation+interpretation+software/alamut+mutation+interpretation+software/pmc03827234-49-6-11
Average 90 stars, based on 1 article reviews
Alamut Mutation Interpretation Software, supplied by BIOPOLIS SL, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/alamut+mutation+interpretation+software/alamut+mutation+interpretation+software/pmc03827234-49-6-11
Average 90 stars, based on 1 article reviews
alamut mutation interpretation software - by Bioz Stars,
2026-09
90/100 stars
Images
Related Articles
Mutagenesis:Article Title: Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin. Article Snippet: .. Both mutations are predicted by the Article Title: Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. Article Snippet: Glanzmann thrombasthenia (GT) is the most widely studied inherited disorder of platelets; it is caused by the absence of platelet aggregation due to quantitative and/or qualitative deficiencies of the aIIbb3 integrin coded by the ITGA2B and ITGB3 genes located at 17q21–23.. Although platelet count and platelet volume (and morphology) are normal in classic GT, some reports have inferred a role for aIIbb3 in megakaryocytopoiesis and some novel but rare point mutations in either of the ITGA2B and ITGB3 genes have been associated with an altered platelet production and selective deficiencies in platelet function.. This was brought to light by the discovery of mutations at Arg995 in aIIb and Asp723 in b3 that lead to platelet anisotropy (increased size variation) and thrombocytopenia. Article Title: Molecular Dynamics Analysis of a Novel β3 Pro189Ser Mutation in a Patient with Glanzmann Thrombasthenia Differentially Affecting αIIbβ3 and αvβ3 Expression Article Snippet: .. Pathogenicity of mutations was analyzed using Software:Article Title: Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin. Article Snippet: .. Both mutations are predicted by the Article Title: Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. Article Snippet: Glanzmann thrombasthenia (GT) is the most widely studied inherited disorder of platelets; it is caused by the absence of platelet aggregation due to quantitative and/or qualitative deficiencies of the aIIbb3 integrin coded by the ITGA2B and ITGB3 genes located at 17q21–23.. Although platelet count and platelet volume (and morphology) are normal in classic GT, some reports have inferred a role for aIIbb3 in megakaryocytopoiesis and some novel but rare point mutations in either of the ITGA2B and ITGB3 genes have been associated with an altered platelet production and selective deficiencies in platelet function.. This was brought to light by the discovery of mutations at Arg995 in aIIb and Asp723 in b3 that lead to platelet anisotropy (increased size variation) and thrombocytopenia. Article Title: Molecular Dynamics Analysis of a Novel β3 Pro189Ser Mutation in a Patient with Glanzmann Thrombasthenia Differentially Affecting αIIbβ3 and αvβ3 Expression Article Snippet: .. Pathogenicity of mutations was analyzed using Expressing:Article Title: Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. Article Snippet: Glanzmann thrombasthenia (GT) is the most widely studied inherited disorder of platelets; it is caused by the absence of platelet aggregation due to quantitative and/or qualitative deficiencies of the aIIbb3 integrin coded by the ITGA2B and ITGB3 genes located at 17q21–23.. Although platelet count and platelet volume (and morphology) are normal in classic GT, some reports have inferred a role for aIIbb3 in megakaryocytopoiesis and some novel but rare point mutations in either of the ITGA2B and ITGB3 genes have been associated with an altered platelet production and selective deficiencies in platelet function.. This was brought to light by the discovery of mutations at Arg995 in aIIb and Asp723 in b3 that lead to platelet anisotropy (increased size variation) and thrombocytopenia. Binding Assay:Article Title: Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. Article Snippet: Glanzmann thrombasthenia (GT) is the most widely studied inherited disorder of platelets; it is caused by the absence of platelet aggregation due to quantitative and/or qualitative deficiencies of the aIIbb3 integrin coded by the ITGA2B and ITGB3 genes located at 17q21–23.. Although platelet count and platelet volume (and morphology) are normal in classic GT, some reports have inferred a role for aIIbb3 in megakaryocytopoiesis and some novel but rare point mutations in either of the ITGA2B and ITGB3 genes have been associated with an altered platelet production and selective deficiencies in platelet function.. This was brought to light by the discovery of mutations at Arg995 in aIIb and Asp723 in b3 that lead to platelet anisotropy (increased size variation) and thrombocytopenia. Recombinant:Article Title: Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. Article Snippet: Glanzmann thrombasthenia (GT) is the most widely studied inherited disorder of platelets; it is caused by the absence of platelet aggregation due to quantitative and/or qualitative deficiencies of the aIIbb3 integrin coded by the ITGA2B and ITGB3 genes located at 17q21–23.. Although platelet count and platelet volume (and morphology) are normal in classic GT, some reports have inferred a role for aIIbb3 in megakaryocytopoiesis and some novel but rare point mutations in either of the ITGA2B and ITGB3 genes have been associated with an altered platelet production and selective deficiencies in platelet function.. This was brought to light by the discovery of mutations at Arg995 in aIIb and Asp723 in b3 that lead to platelet anisotropy (increased size variation) and thrombocytopenia. |