Hermansky-Pudlak syndrome (HPS5) in a nonagenarian

J AAPOS. 2014 Apr;18(2):209-10. doi: 10.1016/j.jaapos.2014.02.002.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Carrier Proteins / genetics*
  • Frameshift Mutation*
  • Hermanski-Pudlak Syndrome / genetics*
  • Humans
  • Male

Substances

  • Carrier Proteins