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Novel mutations in a child with congenital amegakaryocytic thrombocytopenia

✍ Scribed by Lucy C. Pemberton; Diana Levett; Roderick Skinner; Andrew G. Hall; John P. Hanley


Book ID
108674018
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
117 KB
Volume
135
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