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Advances in the understanding of congenital amegakaryocytic thrombocytopenia

✍ Scribed by Matthias Ballmaier; Manuela Germeshausen


Book ID
108676310
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
196 KB
Volume
146
Category
Article
ISSN
0007-1048

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MPL mutations in 23 patients suffering f
✍ Manuela Germeshausen; Matthias Ballmaier; Karl Welte πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 233 KB

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome. Mutations in the gene for the thrombopoietin receptor MPL were defined as the molecular cause in CAMT patients. Extending our sequence analyses from eight to a total of now 23 CAMT patients we could