Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2
鉴定出导致 Hermansky-Pudlak 综合征 2 型的 AP3B1 基因纯合缺失。
期刊:Blood
影响因子:23.1
doi:10.1182/blood-2005-11-4377
Jung, Johannes; Bohn, Georg; Allroth, Anna; Boztug, Kaan; Brandes, Gudrun; Sandrock, Inga; Schäffer, Alejandro A; Rathinam, Chozhavendan; Köllner, Inga; Beger, Carmela; Schilke, Reinhard; Welte, Karl; Grimbacher, Bodo; Klein, Christoph