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Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease

Fei Xie, X. Wang, D.N. Cooper, Fenghua Lan, Yi Fang
DOI: 10.1111/j.1365-2516.2007.01514.x
Haemophilia

Data up to Jan 2025

Published2007
Citations5
References5
Fields
MedicineBiologyGeneticsMolecular biologyInternal medicine
Clinical Trials (1)
NCT02460458NULL

Total Citations Per Year

Abstract

References (5)

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

2004 • 1,167 citations

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

2005 • 165 citations

A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions

2006 • 22 citations

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2000 • 5 citations

von Willebrand disease in China

2000 • 2 citations

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