A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

Am J Med. 2000 Apr 1;108(5):423-7. doi: 10.1016/s0002-9343(99)00436-2.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adaptor Protein Complex beta Subunits
  • Adult
  • Albinism, Oculocutaneous / diagnosis
  • Albinism, Oculocutaneous / genetics*
  • Chediak-Higashi Syndrome / diagnosis
  • Chediak-Higashi Syndrome / genetics*
  • Diagnosis, Differential
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation*

Substances

  • Adaptor Protein Complex beta Subunits
  • Membrane Proteins