HERMANSKY-PUDLAK SYNDROME 5

Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and… Expand

Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive… Expand

Introduction L’albinisme est une pathologie heterogene d’un point de vue clinique et genetique caracterisee par un nystagmus, une… Expand

 

Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding… Expand

Normally, many granules containing uric acid accumulate in the larval integument of the silkworm, Bombyx mori. These uric acid… Expand

Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis resulting in melanosome dysfunction and… Expand

Hermansky-Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and… Expand

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet… Expand

Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease affecting vesicle trafficking among lysosome… Expand