Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

BACKGROUND: Recently our group has described a new autosomal dominant bleeding disorder characterized by very high plasma levels of soluble thrombomodulin (TM). The THBD c.1611C>A (p.Cys537X) mutation in heterozygous state was found in the propositus. This mutation leads to the synthesis of a tru...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:PLoS One
Main Authors: Jourdy, Yohann, Enjolras, Nathalie, Le Quellec, Sandra, Bordet, Jean Claude, Négrier, Claude, Vinciguerra, Christine, Dargaud, Yesim
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2017
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5690669/
https://ncbi.nlm.nih.gov/pubmed/29145514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0188213
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki