Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification.
about
Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site.The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.Genomics of bleeding disorders.Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay.The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.
P2860
Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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name
Large deletions identified in ...... dependent probe amplification.
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Large deletions identified in ...... dependent probe amplification.
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type
label
Large deletions identified in ...... dependent probe amplification.
@en
Large deletions identified in ...... dependent probe amplification.
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prefLabel
Large deletions identified in ...... dependent probe amplification.
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Large deletions identified in ...... dependent probe amplification.
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P2093
P2860
P1476
Large deletions identified in ...... dependent probe amplification.
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P2093
P2860
P304
P356
10.1111/J.1538-7836.2011.04260.X
P577
2011-05-01T00:00:00Z