Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. [electronic resource]
- Blood Aug 1994
- 1124-31 p. digital
Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0006-4971
Adult Amino Acid Sequence Asparagine Base Sequence Bernard-Soulier Syndrome--blood Blood Platelets--physiology Blotting, Western DNA--blood DNA Primers Female Genetic Variation Humans Leucine Male Molecular Sequence Data Pedigree Platelet Aggregation Platelet Membrane Glycoproteins--analysis Point Mutation Polymerase Chain Reaction Reference Values Serine