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

M L Jones, S L Murden, D Bem, S J Mundell, P Gissen, M E Daly, S P Watson, A D Mumford, UK GAPP Study Group

Research output: Contribution to journalArticle (Academic Journal)

21 Citations (Scopus)
Original languageEnglish
Pages (from-to)306-9
Number of pages4
JournalLitte<acute>ratures classiques (Title of volume: The<acute>a<circumflex>tre et musique au XVIIe sie<grave>cle) (Editor of issue: C. Mazouer)
Volume10
Issue number2
DOIs
Publication statusPublished - Feb 2012

Keywords

  • Adult
  • Blood Coagulation Disorders, Inherited
  • Consanguinity
  • Genotype
  • Hermanski-Pudlak Syndrome
  • Humans
  • Male
  • Phenotype
  • Pilot Projects
  • Polymorphism, Single Nucleotide
  • Proteins
  • Sequence Analysis, DNA

Cite this