TY  - GEN
AU  - Clemetson,J M
AU  - Kyrle,P A
AU  - Brenner,B
AU  - Clemetson,K J
TI  - Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX
SN  - 0006-4971
PY  - 1994///0907
KW  - Adult
KW  - Amino Acid Sequence
KW  - Asparagine
KW  - Base Sequence
KW  - Bernard-Soulier Syndrome
KW  - blood
KW  - Blood Platelets
KW  - physiology
KW  - Blotting, Western
KW  - DNA
KW  - DNA Primers
KW  - Female
KW  - Genetic Variation
KW  - Humans
KW  - Leucine
KW  - Male
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Platelet Aggregation
KW  - Platelet Membrane Glycoproteins
KW  - analysis
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Reference Values
KW  - Serine
N1  - Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
ER  -