Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the

HIGHLIGHTS

• who: Hermansky-Pudlak syndrome et al. from the University of Oxford, United Kingdom have published the Article: Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the, in the Journal: (JOURNAL)
• what: The authors report the clinical and mutational analyses of six HPS-3-affected individuals from three Israeli families of Ashkenazi Jewish descent.

SUMMARY

Impact membrane trafficking and protein sorting to facilitate lysosome-related organelle (LRO) maturation (Smith et_al, 2005; Huizing et_al, 2020; Pennamen et_al, 2020). HPS-3 is clinically mild compared with HPS-1, patients have milder . . .

 



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