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
Gillian Lowe, I. Sánchez Guiu, O. Chapman, J. Rivera, M. Lordkipanidzé, N. Dovlatova, J. Wilde, S. P. Watson, N. V. Morgan