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http://purl.uniprot.org/citations/11758225http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11758225http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11758225http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To diagnose a patient with Bernard-Soulier syndrome (BSS) and investigate her gene abnormality.

Methods

Platelet size and structure were studied under light and electron microscopies. Platelet membrane glycoproteins (GP) were measured by flow cytometry. PCR and DNA sequencing were used to identify gene abnormality.

Results

The patient had thrombocytopenia with giant platelets. Ristocetin-induced platelet agglutination was absent. GP I b/IX complex in the platelet membrane was significantly decreased, which was resulted from an Ala139 Thr substitution in the transmembrane domain of GPIX.

Conclusion

Ala139 Thr mutation of the GPIX gene in this patient is a novel missense mutation, which has not been reported in BSS."xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/author"Han Y."xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/author"Han Y."xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/author"Shi J."xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/author"Shi J."xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/author"Wang Z."xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/author"Wang Z."xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/name"Zhonghua Xue Ye Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/name"Zhonghua Xue Ye Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/pages"464-466"xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/pages"464-466"xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/title"A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient."xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/title"A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient."xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/volume"22"xsd:string
http://purl.uniprot.org/citations/11758225http://purl.uniprot.org/core/volume"22"xsd:string
http://purl.uniprot.org/citations/11758225http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11758225
http://purl.uniprot.org/citations/11758225http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11758225
http://purl.uniprot.org/citations/11758225http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/11758225
http://purl.uniprot.org/citations/11758225http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/11758225
http://purl.uniprot.org/uniprot/P14770http://purl.uniprot.org/core/citationhttp://purl.uniprot.org/citations/11758225
http://purl.uniprot.org/uniprot/P14770#attribution-6FFE9DB6238B9C67A4CC5D7F8E7BD04Fhttp://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/11758225
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