Article
Hermansky-Pudlak syndrome: models for intracellular vesicle formation.
Molecular genetics and metabolism - 1 Oct 1998
Shotelersuk V, Gahl W A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by pigment dilution, nystagmus, decreased visual acuity, a bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Electron microscopic evidence demonstrating lack of platelet-dense bodies provides the s...
Topics
- Adult
- Albinism, Oculocutaneous
- Animals
- Cell Compartmentation
- Child
- Child, Preschool
- Disease Models, Animal
- Female
- Humans
- Male
- Membrane Proteins
- Mice
- Mice, Mutant Strains
- Models, Biological
- Mutation
- Phenotype
- Platelet Storage Pool Deficiency