טוען...
Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function
Here, we describe a mother and son with a lifelong bleeding tendency and posttraumatic bleeding who were recruited to the UK Genotyping and Phenotyping of Platelets (GAPP) study with a suspected platelet function disorder. However, despite a clinically significant bleeding score, both had normal pla...
שמור ב:
| הוצא לאור ב: | Platelets |
|---|---|
| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Taylor & Francis
2017
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5646180/ https://ncbi.nlm.nih.gov/pubmed/28267383 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/09537104.2017.1283011 |
| תגים: |
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