Phenotype analysis and clinical management in a large family with a novel truncating mutation in RASGRP2, the CalDAG‐GEFI encoding gene

ESSENTIALS: Mutations in the RASGRP2 gene represent a new inherited platelet function disorder. Report a five generation family with a novel frameshift mutation in RASGRP2 (p.F497Sfs*22). Partial platelet activation defect and serious bleeding complications in homozygous patients. Patients respond t...

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Veröffentlicht in:Res Pract Thromb Haemost
Hauptverfasser: Desai, Amrita, Bergmeier, Wolfgang, Canault, Mathias, Alessi, Marie‐Christine, Paul, David S., Nurden, Paquita, Pillois, Xavier, Jy, Wenche, Ahn, Yeon S., Nurden, Alan T.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5974916/
https://ncbi.nlm.nih.gov/pubmed/30046681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/rth2.12019
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