Condition: HERMANSKY-PUDLAK SYNDROME 5
rs1131692146
in
HPS5
gene and
HERMANSKY-PUDLAK SYNDROME 5
PMID 28640947
2017 Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
PMID 15296495
2004 Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.