Literature DB >> 29220693

Type 1 von Willebrand disease due to a vicinal cysteine loss (p.C524Y) disclosed after a thrombotic episode.

Viviana Daidone1, Eva Galletta1, Alessandra Casonato2.   

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Year:  2017        PMID： 29220693     DOI： 10.1016/j.thromres.2017.11.021

Source DB:  PubMed          Journal:  Thromb Res        ISSN： 0049-3848            Impact factor:   3.944


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1.  Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor.

Authors:  Viviana Daidone; Eva Galletta; Luigi De Marco; Alessandra Casonato
Journal:  Haematologica       Date:  2019-07-18       Impact factor: 9.941
  1 in total

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