The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

@article{Huang1999ThePG,
  title={The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency},
  author={Liping Huang and Y M Kuo and Jane Gitschier},
  journal={Nature Genetics},
  year={1999},
  volume={23},
  pages={329-332}
}
Pallid (pa) is 1 of 13 platelet storage pool deficiency (SPD) mouse mutants. pa animals suffer from prolonged bleeding time, pigment dilution, kidney lysosomal enzyme elevation, serum α1-antitrypsin activity deficiency and abnormal otolith formation. As with other mouse mutants of this class, characterization of pa mice suggests a defect in organelle biosynthesis. Here we describe the physical mapping, positional cloning, and mutational and functional analysis of the gene that is defective in… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 65 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 30 references

The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for HermanskyPudlak syndrome and night blindness

  • L Feng
  • Hum. Mol. Genet
  • 1999

Mutation analysis of patients with Hermansky - Pudlak syndrome : a frameshift hot spot in the HPS gene and apparent locus heterogeneity

  • J. Oh
  • Am . J . Hum . Genet .
  • 1998

a frameshift hot spot in the HPS gene and apparent locus heterogeneity

  • Oh, J. et al. Mutation analysis of patients with Hermansk syndrome
  • Am. J. Hum. Genet. 62, 593–598
  • 1998

Similar Papers

Loading similar papers…