An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease.
about
Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand diseaseThe Impact of Selection at the Amino Acid Level on the Usage of Synonymous Codons.A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).Type 2N von Willebrand disease: Characterization and diagnostic difficulties.
P2860
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P2860
An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease.
description
2011 nî lūn-bûn
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2011 թուականի Մարտին հրատարակուած գիտական յօդուած
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2011 թվականի մարտին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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name
An apparently silent nucleotid ...... type 1 von Willebrand disease.
@ast
An apparently silent nucleotid ...... type 1 von Willebrand disease.
@en
type
label
An apparently silent nucleotid ...... type 1 von Willebrand disease.
@ast
An apparently silent nucleotid ...... type 1 von Willebrand disease.
@en
prefLabel
An apparently silent nucleotid ...... type 1 von Willebrand disease.
@ast
An apparently silent nucleotid ...... type 1 von Willebrand disease.
@en
P2093
P2860
P1433
P1476
An apparently silent nucleotid ...... type 1 von Willebrand disease.
@en
P2093
Alessandra Casonato
Antonella Bertomoro
Antonio Pagnan
Elena Pontara
Lisa Gallinaro
Maria Grazia Cattini
Viviana Daidone
P2860
P304
P356
10.3324/HAEMATOL.2010.036848
P577
2011-03-10T00:00:00Z