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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...

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Detalhes bibliográficos
Main Authors: Langdown, Jonathan, Luddington, Roger J., Huntington, James A., Baglin, Trevor P.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2014
Assuntos:
Acesso em linha: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
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