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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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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society of Hematology
2014
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| 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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