Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
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Treatment of spinal muscular atrophy by sodium butyrate.Demystified...adhesion molecule deficiencies.Associations between aromatase CYP19 rs10046 polymorphism and breast cancer risk: from a case-control to a meta-analysis of 20,098 subjects.The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and operable stage III breast cancerThe regulation of splice-site selection, and its role in human diseaseIntegrin-dependent control of translation: engagement of integrin alphaIIbbeta3 regulates synthesis of proteins in activated human platelets.GSK3beta is a negative regulator of platelet function and thrombosis.Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex.Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Aberrant HS1 molecule in a patient with systemic lupus erythematosus.A Val193Met mutation in GPIIIa results in a GPIIb/IIIa receptor with a constitutively high affinity for a small ligand.Sodium Butyrate and Valproic Acid as Splicing Restoring Agents in Erythroid Cells of β-Thalassemic Patients.Rs1008805 polymorphism of CYP19A1 gene is associated with the efficacy of hormone therapy in stage I-II and operable stage III breast cancer.Two genetic defects in alphaIIb are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: a 14-base insertion in exon 13 and a splicing defect of intron 13.Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.Prevalence of AIP mutations in a series of Turkish acromegalic patients: are synonymous AIP mutations relevant?
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Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
description
article científic
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article scientifique
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articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 1996
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Glanzmann thrombasthenia. Coop ...... during splice site selection.
@en
Glanzmann thrombasthenia. Coop ...... during splice site selection.
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type
label
Glanzmann thrombasthenia. Coop ...... during splice site selection.
@en
Glanzmann thrombasthenia. Coop ...... during splice site selection.
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prefLabel
Glanzmann thrombasthenia. Coop ...... during splice site selection.
@en
Glanzmann thrombasthenia. Coop ...... during splice site selection.
@nl
P2093
P2860
P356
P1476
Glanzmann thrombasthenia. Coop ...... during splice site selection.
@en
P2093
I McIntosh
R A Montgomery
P2860
P304
P356
10.1172/JCI118973
P407
P577
1996-10-01T00:00:00Z