Clinical and laboratory features of 103 patients from 42 italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of gpibα (Bolzano mutation)

Haematologica

Volumn 97, Issue 1, 2012, Pages 82-88

  Noris, Patrizia ^a   Perrotta, Silverio ^b   Bottega, Roberta ^c   Pecci, Alessandro ^a   Melazzini, Federica ^a   Civaschi, Elisa ^a   Russo, Sabina ^d   Magrin, Silvana ^e   Loffredo, Giuseppe ^f   Salvo, Veronica Di ^g   Russo, Giovanna ^h   Casale, Maddalena ^b   de Rocco, Daniela ^c   Grignani, Claudio ^a   Cattaneo, Marco ⁱ   Baronci, Carlo ^j   Dragani, Alfredo ^k   Albano, Veronica ^l   Jankovic, Momcilo ^m   Scianguetta, Saverio ^b   Savoia, Anna ^c   Balduini, Carlo L ^a   more..

^a UNIVERSITY OF PAVIA   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c UNIVERSITY OF TRIESTE   (Italy)

^d UNIVERSITY OF MESSINA   (Italy)

^e VILLA SOFIA CERVELLO HOSPITAL   (Italy)

^f SANTOBONO PAUSILIPON CHILDREN S HOSPITAL   (Italy)

^g AOR Villa Sofia V Cervello   (Italy)

^h UNIVERSITY OF CATANIA   (Italy)

ⁱ UNIVERSITY OF MILAN   (Italy)

^j BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^k SPIRITO SANTO HOSPITAL   (Italy)

^l UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^m SAN GERARDO HOSPITAL   (Italy)

more..

Author keywords

Bernard soulier syndrome; Bolzano mutation; Inherited thrombocytopenia; Monoallelic

Indexed keywords

THROMBIN RECEPTOR;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BERNARD SOULIER DISEASE; BLEEDING TENDENCY; BOLZANO MUTATION; CELL SIZE; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GEOGRAPHY; GPIBA GENE; HAPLOTYPE; HUMAN; IN VITRO STUDY; ITALY; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PRESCHOOL CHILD; PROTEIN EXPRESSION; SCHOOL CHILD; THROMBOCYTE AGGREGATION; THROMBOCYTOPENIA;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BERNARD-SOULIER SYNDROME; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; INFANT; ITALY; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PLATELET AGGREGATION; PLATELET COUNT; POLYMORPHISM, GENETIC; THROMBOCYTOPENIA; THROMBOPOIETIN; TUBULIN; YOUNG ADULT;

EID: 84855218880     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.050682     Document Type: Article

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