Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: Identification of the second HPS7 mutation in a patient presenting late in life

Por Lowe, Gillian C., Guiu, Isabel Sánchez, Chapman, Oliver, Rivera, José, Lordkipanidzé, Marie, Dovlatova, Natalia, Wilde, Jonathan, Watson, Steve P., Morgan, Neil V.
Publicado em 2013

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy

Por Burley, Kate, Whyte, Claire S., Westbury, Sarah K., Walker, Mary, Stirrups, Kathleen E., Turro, Ernest, Chapman, Oliver G., Reilly-Stitt, Christopher, Mutch, Nicola J., Mumford, Andrew D.
Publicado no Blood (2016)