Article
Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.
Human molecular genetics - 1 May 1997
Feng G H, Bailin T, Oh J, Spritz R A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a rare, often fatal, autosomal recessive disorder in which albinism, bleeding and lysosomal storage are associated with defects of diverse cytoplasmic organelles, including melanosomes, platelet dense granules and lysosomes. Similar multi-organellar defects occu...
Topics
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Animals
- Base Sequence
- Cloning, Molecular
- Conserved Sequence
- Disease Models, Animal
- Ear
- Homozygote
- Humans
- Introns
- Lysosomal Storage Diseases