| http://purl.uniprot.org/citations/9886312 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9886312 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9886312 | http://www.w3.org/2000/01/rdf-schema#comment | "We describe a new variant of Bernard-Soulier syndrome characterized by almost normal amounts of GPIb and severely reduced GPIX and GPV. Despite surface expression, GPIbalpha failed to support ristocetin-induced platelet agglutination and to bind two conformation-dependent monoclonal antibodies, suggesting a qualitative defect. Sequence analysis of the gene coding for GPIX revealed a T-to-C substitution at base 1811, leading to a Leu40Pro conversion, whereas no defects were found in the coding region of the GPIbalpha gene. Allele-specific restriction enzyme analysis showed that the propositus and one of his sisters. both with severe bleeding diathesis. were homozygous for the GPIX mutation: the members of the family with mild bleeding diathesis and/or giant platelets in the peripheral blood were heterozygous, whereas the healthy ones were homozygous for the normal allele. Infusion of 1-desamino-8-D-arginine vasopressin normalized bleeding time in the two severely affected patients, although it did not modify ristocetin-induced platelet agglutination or membrane expression of GPIbalpha, GPIX, GPIIb-IIIa and GMP-140. Moreover, in one patient, normalization of bleeding time and rise of von Willebrand factor plasma concentration did not seem to be directly related."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1365-2141.1998.01100.x"xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1365-2141.1998.01100.x"xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/author | "Arbustini E."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/author | "Arbustini E."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/author | "Balduini C.L."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/author | "Balduini C.L."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/author | "Noris P."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/author | "Noris P."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/author | "Belletti S."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/author | "Belletti S."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/author | "Spedini P."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/author | "Spedini P."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/name | "Br. J. Haematol."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/name | "Br. J. Haematol."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/pages | "1004-1013"xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/pages | "1004-1013"xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/title | "A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/title | "A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV."xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/volume | "103"xsd:string |
| http://purl.uniprot.org/citations/9886312 | http://purl.uniprot.org/core/volume | "103"xsd:string |