Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome

J Thromb Haemost. 2012 Feb;10(2):306-9. doi: 10.1111/j.1538-7836.2011.04569.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Blood Coagulation Disorders, Inherited / diagnosis
  • Blood Coagulation Disorders, Inherited / genetics
  • Consanguinity
  • Genotype
  • Guanine Nucleotide Exchange Factors
  • Hermanski-Pudlak Syndrome / diagnosis*
  • Hermanski-Pudlak Syndrome / genetics*
  • Humans
  • Male
  • Phenotype
  • Pilot Projects
  • Polymorphism, Single Nucleotide*
  • Proteins / genetics*
  • Sequence Analysis, DNA / methods*

Substances

  • Guanine Nucleotide Exchange Factors
  • HPS4 protein, human
  • Proteins