Assessment of the Olfactory Function in Italian Patients with Type 3 von Willebrand Disease Caused by a Homozygous 253 Kb Deletion Involving VWF and TMEM16B/ANO2

Type 3 Von Willebrand disease is an autosomal recessive disease caused by the virtual absence of the von Willebrand factor (VWF). A rare 253 kb gene deletion on chromosome 12, identified only in Italian and German families, involves both the VWF gene and the N-terminus of the neighbouring TMEM16B/AN...

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Bibliografische gegevens
Gepubliceerd in:PLoS One
Hoofdauteurs: Cenedese, Valentina, Mezzavilla, Massimo, Morgan, Anna, Marino, Renato, Ettorre, Cosimo Pietro, Margaglione, Maurizio, Gasparini, Paolo, Menini, Anna
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2015
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4312080/
https://ncbi.nlm.nih.gov/pubmed/25635880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0116483
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