Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. [electronic resource]
Producer: 19940907Description: 1124-31 p. digitalISSN:- 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
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Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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