TY  - GEN
AU  - Afshar-Kharghan,V
AU  - Craig,F E
AU  - López,J A
TI  - Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein ib alpha gene
SN  - 0007-1048
PY  - 2000///1109
KW  - Bernard-Soulier Syndrome
KW  - blood
KW  - Blood Platelets
KW  - chemistry
KW  - Female
KW  - Flow Cytometry
KW  - Frameshift Mutation
KW  - Gene Deletion
KW  - Heterozygote
KW  - Humans
KW  - Immunoblotting
KW  - methods
KW  - Infant
KW  - Mutagenesis, Site-Directed
KW  - Platelet Function Tests
KW  - Platelet Glycoprotein GPIb-IX Complex
KW  - analysis
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1046/j.1365-2141.2000.02261.x
ER  -