Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

Jarmo Körkkö, Susanna Annunen, Tero Pihlajamaa et al. · Proceedings of the National Academy of Sciences · 1998 · 236 citations

Life Sciences, Genetics, Molecular Biology +16

Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIa.

Paul F. Bray, Jean‐Philippe Rosa, Vishwanath R. Lingappa et al. · Proceedings of the National Academy of Sciences · 1986 · 119 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Hematologically Important Mutations: Glanzmann Thrombasthenia

Deborah L. French, Barry S. Coller · Blood Cells Molecules and Diseases · 1997 · 92 citations

Life Sciences, Genetics, Hematology +7

R to Q Amino Acid Substitution in the GFFKR Sequence of the Cytoplasmic Domain of the Integrin IIb Subunit in a Patient With a Glanzmann’s Thrombasthenia-Like Syndrome

Olivier Peyruchaud, Alan T. Nurden, S. Milet et al. · Blood · 1998 · 67 citations

Life Sciences, Biochemistry, Molecular Biology +10