Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome.

Simsek, S; Admiraal, L G; Modderman, P W; van der Schoot, C E; von dem Borne, A E

Simsek, S; Admiraal, L G; Modderman, P W; van der Schoot, C E; von dem Borne, A E.

Affiliation

Simsek S; Department of Immunologic Haematology, Central Laboratory of The Netherlands Red Cross Blood Transfusion Service, Amsterdam.

Thromb Haemost ; 72(3): 444-9, 1994 Sep.

Article in En | MEDLINE | ID: mdl-7855797

Subject(s)

Bernard-Soulier Syndrome/genetics; Platelet Membrane Glycoproteins/genetics; Receptors, Cell Surface/genetics; Sequence Deletion; Adult; Alleles; Amino Acid Sequence; Base Composition; Base Sequence; DNA Mutational Analysis; Female; Genes; Homozygote; Humans; Male; Molecular Sequence Data; Pedigree; Platelet Membrane Glycoproteins/deficiency; Polymerase Chain Reaction; Receptors, Cell Surface/deficiency; Sequence Alignment; von Willebrand Factor/metabolism

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Collection: 01-internacional Database: MEDLINE Main subject: Bernard-Soulier Syndrome / Platelet Membrane Glycoproteins / Sequence Deletion / Receptors, Cell Surface Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Thromb Haemost Year: 1994 Document type: Article

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