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

Journal of Thrombosis and Haemostasis

Volumn 10, Issue 2, 2012, Pages 306-309

  Jones, M L ^a   Murden, S L ^a   Bem, D ^b   Mundell, S J ^a   Gissen, P ^c   Daly, M E ^d   Watson, S P ^b   Mumford, A D ^a  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; GENOMIC DNA; HPS4 PROTEIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; CLINICAL ARTICLE; EXON; GENE MAPPING; GENE SEQUENCE; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; LETTER; MALE; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PHENOTYPE; PILOT STUDY; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTOPATHY;

ADULT; BLOOD COAGULATION DISORDERS, INHERITED; CONSANGUINITY; GENOTYPE; HERMANSKI-PUDLAK SYNDROME; HUMANS; MALE; PHENOTYPE; PILOT PROJECTS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84856521429     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2011.04569.x     Document Type: Letter

References (5)

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