Haploinsufficiency of the platelet P2Y12 gene in a family with congenital bleeding diathesis

Haematologica

Volumn 94, Issue 4, 2009, Pages 581-584

  Fontana, Gessica ^a   Ware, Jerry ^b   Cattaneo, Marco ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Congenital bleeding diathesis; Haploinsufficiency; P2y(12) gene

Indexed keywords

GENOMIC DNA; PURINERGIC P2Y12 RECEPTOR; PURINERGIC P2 RECEPTOR;

ALLELE; ARTICLE; BLEEDING TENDENCY; CASE REPORT; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HAPLOTYPE; HUMAN; MALE; PHENOTYPE; REAL TIME POLYMERASE CHAIN REACTION; RECEPTOR GENE; SOUTHERN BLOTTING; THROMBOCYTE; THROMBOCYTE DYSFUNCTION; BLEEDING; FAMILY HEALTH; GENETICS; HAPLOIDY; NUCLEOTIDE SEQUENCE; THROMBOCYTE DISORDER;

BLOOD PLATELET DISORDERS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HAPLOIDY; HEMORRHAGE; HUMANS; MALE; RECEPTORS, PURINERGIC P2;

EID: 66349105667     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.13611     Document Type: Article

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