Literature DB >> 1301136

Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III.

Z P Zhang1, G Falk, M Blombäck, N Egberg, M Anvret.   

Abstract

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Year:  1992        PMID： 1301136     DOI： 10.1093/hmg/1.1.61

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  2 in total

1.  Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.

Authors:  Z P Zhang; M Lindstedt; G Falk; M Blombäck; N Egberg; M Anvret
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

2.  Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

Authors:  Eva Leinøe; Eva Zetterberg; Savvas Kinalis; Olga Østrup; Peter Kampmann; Eva Norström; Nadine Andersson; Jenny Klintman; Klaus Qvortrup; Finn Cilius Nielsen; Maria Rossing
Journal:  Br J Haematol       Date:  2017-07-27       Impact factor: 6.998
  2 in total

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