Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse - Barbosa, MD; Barrat, FJ; Tchemev, VT; Nguyen, QA; Mishra, VS; Colman, SD; Pastural, E; Dufourcq-Lagelouse, R; Fischer, A; Holcombe, RF; Wallace, MR; Brandt, SJ; de Saint Basile, G; Kingsmore, SF (Hum Mol Genet, 1997)