The molecular genetics of von Willebrand disease

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The molecular genetics of von Willebrand disease

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article científic

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article scientifique

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bilimsel makale

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scientific article published on 05 December 2012

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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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The molecular genetics of von Willebrand disease

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The molecular genetics of von Willebrand disease.

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The molecular genetics of von Willebrand disease

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The molecular genetics of von Willebrand disease.

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The molecular genetics of von Willebrand disease

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The molecular genetics of von Willebrand disease.

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The molecular genetics of von Willebrand disease

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P2093

Ergül Berber

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P2860

A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion

Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family

Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion

Structural specializations of A2, a force-sensing domain in the ultralarge vascular protein von Willebrand factor

Amino acid sequence of human von Willebrand factor

Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation.

Type 1 von Willebrand disease: application of emerging data to clinical practice.

Insights into von Willebrand factor proteolysis: clinical implications.

Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia.

Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.

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313-324

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scholarly article

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10.5505/TJH.2012.39205

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P478

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2012-12-05T00:00:00Z

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259567232

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24385719

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3781629

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