Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany.

Sachs, Ulrich J H; Kroll, Hartmut; Matzdorff, Axel C; Berghöfer, Heike; Löpez, José A; Santoso, Sentot

Sachs, Ulrich J H; Kroll, Hartmut; Matzdorff, Axel C; Berghöfer, Heike; Löpez, José A; Santoso, Sentot.

Affiliation

Sachs UJ; Institute for Clinical Immunology and Transfusion Medicine, Justus Liebig-University, Giessen, Germany, ulrich.sachs@immunologie.med.uni-giessen.de

Br J Haematol ; 123(1): 127-31, 2003 Oct.

Article in En | MEDLINE | ID: mdl-14510954

Subject(s)

Bernard-Soulier Syndrome/genetics; Platelet Glycoprotein GPIb-IX Complex/genetics; Point Mutation; Adolescent; Child; Flow Cytometry; Homozygote; Humans; Immunoblotting; Middle Aged; Polymorphism, Restriction Fragment Length; Sequence Analysis, DNA

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Collection: 01-internacional Database: MEDLINE Main subject: Bernard-Soulier Syndrome / Point Mutation / Platelet Glycoprotein GPIb-IX Complex Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Humans / Middle aged Language: En Journal: Br J Haematol Year: 2003 Type: Article

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