Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus

@article{Oh2001CharacterizationAE,
  title={Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus},
  author={Jangsuk Oh and Timothy D. LeCras and Richard A. Spritz},
  journal={Mammalian Genome},
  year={2001},
  volume={12},
  pages={466-468}
}
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA); bleeding tendency due lack of platelet-dense granules, and storage pool deficiency (SPD); and lysosomal storage of ceroid-like material (Hermansky and Pudlak 1959; Spritz 2000). Life-threatening manifestations are frequent, principally… CONTINUE READING