Clemetson, J M

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