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Rapid genetic diagnosis of heritable platelet function disorders with next‐generation sequencing: proof‐of‐principle with Hermansky–Pudlak syndrome
Author(s) -
JONES M. L.,
MURDEN S. L.,
BEM D.,
MUNDELL S. J.,
GISSEN P.,
DALY M. E.,
WATSON S. P.,
MUMFORD A. D.
Publication year - 2012
Publication title -
journal of thrombosis and haemostasis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.947
H-Index - 178
eISSN - 1538-7836
pISSN - 1538-7933
DOI - 10.1111/j.1538-7836.2011.04569.x
Subject(s) - hermansky–pudlak syndrome , candidate gene , platelet disorder , sanger sequencing , genetics , blood platelet disorders , computational biology , gene , genetic heterogeneity , biology , identification (biology) , dna sequencing , bioinformatics , phenotype , medicine , platelet , pathology , immunology , platelet aggregation , pulmonary fibrosis , fibrosis , botany