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. These genes and their predicted proteins are highly conserved at the nucleotide and amino acid levels. Sequence analysis...
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