Associated Papers
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Bottega R et al.
Haematologica, 2022
34788986 (PubMed )
Supplement: 2021_279689_BOTTEGA_SUPPL.pdf
Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.
Maclachlan A et al.
Platelets, 2017
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R et al.
British Journal of Haematology, 2015
A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.
Manchev VT et al.
Blood, 2014
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