Caricamento...

A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop)

In this study, we describe a novel thrombomodulin (TM) mutation (c.1611C>A) that codes for a change from cysteine 537 to a premature stop codon (p.Cys537Stop). Three members of a family with a history of posttraumatic bleeding were identified to be heterozygous for this TM mutation. All coagulati...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Langdown, Jonathan, Luddington, Roger J., Huntington, James A., Baglin, Trevor P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2014
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4168350/
https://ncbi.nlm.nih.gov/pubmed/25049278
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-02-557538
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !