Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life

Thromb Haemost. 2013 Apr;109(4):766-8. doi: 10.1160/TH12-11-0876. Epub 2013 Jan 31.

Abstract

The use of microsatellite markers provides a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Blood Coagulation / genetics
  • Carrier Proteins / blood
  • Carrier Proteins / genetics*
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Dysbindin
  • Dystrophin-Associated Proteins
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Hermanski-Pudlak Syndrome / blood
  • Hermanski-Pudlak Syndrome / genetics*
  • Humans
  • Microsatellite Repeats*
  • Mutation*
  • Pedigree
  • Phenotype
  • Prognosis
  • Skin Pigmentation / genetics

Substances

  • Carrier Proteins
  • Codon, Nonsense
  • DTNBP1 protein, human
  • Dysbindin
  • Dystrophin-Associated Proteins