Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome
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Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndromeA new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPVA case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding.Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.GFI1B mutation causes a bleeding disorder with abnormal platelet function.Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.Role of thrombin signalling in platelets in haemostasis and thrombosis.Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.Spectrum of the mutations in Bernard-Soulier syndrome.A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations.The Molecular Genetics of Platelet Membrane Proteins and their Inherited Disorders.
P2860
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P2860
Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on March 1990
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Nonsense mutation in the glyco ...... with Bernard-Soulier syndrome
@en
Nonsense mutation in the glyco ...... with Bernard-Soulier syndrome.
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type
label
Nonsense mutation in the glyco ...... with Bernard-Soulier syndrome
@en
Nonsense mutation in the glyco ...... with Bernard-Soulier syndrome.
@nl
prefLabel
Nonsense mutation in the glyco ...... with Bernard-Soulier syndrome
@en
Nonsense mutation in the glyco ...... with Bernard-Soulier syndrome.
@nl
P2093
P2860
P356
P1476
Nonsense mutation in the glyco ...... with Bernard-Soulier syndrome
@en
P2093
R E Scharf
R McMillan
S R Russell
Z M Ruggeri
P2860
P304
P356
10.1073/PNAS.87.5.2026
P407
P577
1990-03-01T00:00:00Z