Genetic & Genomic MedicineBritish Journal of HaematologyPeer-reviewed
A Sardinian founder mutation in GP1BB that impacts thrombocytopenia.
Fabio Busonero, Maristella Steri, Valeria Orrù…·Francesco Cucca
The paper identifies a rare Sardinian founder mutation in GP1BB associated with thrombocytopenia and reduced GPIb-IX-V complex expression.
2 citations