Article
The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 19 Aug 1997
Gardner J M, Wildenberg S C, Keiper N M, Novak E K, Rusiniak M E, Swank R T, Puri N, Finger J N, Hagiwara N, Lehman A L, Gales T L, Bayer M E, King R A, Brilliant M H
Abstract excerpt
The recessive mutation at the pale ear (ep) locus on mouse chromosome 19 was found to be the homologue of human Hermansky-Pudlak syndrome (HPS). A positional cloning strategy using yeast artificial chromosomes spanning the HPS locus was used to identify the HPS gene and its murine counterpart. Th...
Topics
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Animals
- Chromosome Mapping
- Disease Models, Animal
- Humans
- Mice
- Mice, Mutant Strains
- Molecular Sequence Data
- Mutation
- Sequence Alignment