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"Hermansky-Pudlak" syndrome
- ... the HPS1 gene have been found to cause Hermansky-Pudlak syndrome type 1. Individuals with this form of the ... pulmonary fibrosis. The HPS1 gene mutations that cause Hermansky-Pudlak syndrome type 1 impair the normal function of BLOC- ...
- ... the HPS3 gene have been found to cause Hermansky-Pudlak syndrome type 3, which is a mild form of ... bleeding problems. The HPS3 gene mutations that cause Hermansky-Pudlak syndrome type 3 impair the normal function of BLOC- ...
- ... Gene ClinVar Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation ...