Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature

OBJECTIVE: To genetically and functionally characterize mutations of c-Mpl, that lead to thrombocytopenia in a child with congenital amegakaryocytic thrombocytopenia (CAMT). METHODS: We identified two c-Mpl mutations in a child with clinical features of CAMT, one a previously described mutation in t...

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Main Authors: Fox, Norma E., Chen, Rose, Hitchcock, Ian, Keates-Baleeiro, Jennifer, Frangoul, Haydar, Geddis, Amy E.
Formato: Artigo
Idioma:Inglês
Publicado: 2009
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694734/
https://ncbi.nlm.nih.gov/pubmed/19302922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exphem.2009.01.001
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