title: Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.
authors: M L
authors: ML
authors: Jones
authors: S L
authors: SL
authors: Murden
authors: D
authors: D
authors: Bem
authors: S J
authors: SJ
authors: Mundell
authors: P
authors: P
authors: Gissen
authors: M E
authors: ME
authors: Daly
authors: S P
authors: SP
authors: Watson
authors: A D
authors: AD
authors: Mumford
mesh_terms: D000328:Adult; D025861:Blood Coagulation Disorders, Inherited / Q000175:diagnosis / Q000235:genetics; D003241:Consanguinity; D005838:Genotype; D020662:Guanine Nucleotide Exchange Factors; D022861:Hermanski-Pudlak Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C451752:HPS4 protein, human; D011506:Proteins