Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency

Haematologica

Volumn 89, Issue 3, 2004, Pages 325-329

  Corral, Javier ^a,d   González Conejero, Rocio ^a   Pujol Moix, Nuria ^b   Domenech, Pere ^c   Vicente, Vicente ^a  

^a UNIVERSITY OF MURCIA   (Spain)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^d HOSPITAL UNIVERSITARIO MORALES MESEGUER   (Spain)

Author keywords

Bleeding; Genetics; HPS1 gene; Platelet dense granules

Indexed keywords

ADULT; ARTICLE; BLEEDING TENDENCY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HPS1 GENE; HUMAN; INTRON; MALE; MORPHOLOGY; OCULAR ALBINISM; PHENOTYPE; PLATELET DENSE GRANULE DEFICIENCY; PREVALENCE; RARE DISEASE; THROMBOCYTE ANOMALY; TRANSMISSION ELECTRON MICROSCOPY;

ADULT; BLOOD PLATELETS; CHILD; CYTOPLASMIC GRANULES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HERMANSKI-PUDLAK SYNDROME; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUTATION; PHENOTYPE; PLATELET STORAGE POOL DEFICIENCY; POLYMORPHISM, GENETIC; PROTAMINES;

EID: 2942703713     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

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