TY  - GEN
AU  - Simsek,S
AU  - Heyboer,H
AU  - de Bruijne-Admiraal,L G
AU  - Goldschmeding,R
AU  - Cuijpers,H T
AU  - von dem Borne,A E
TI  - Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA
SN  - 0006-4971
PY  - 1993///0519
KW  - Adult
KW  - Amino Acid Sequence
KW  - Antibodies, Monoclonal
KW  - Base Sequence
KW  - Blood Platelets
KW  - chemistry
KW  - DNA
KW  - Deoxyribonucleases, Type II Site-Specific
KW  - Exons
KW  - Female
KW  - Gene Deletion
KW  - Homozygote
KW  - Humans
KW  - Immunosorbent Techniques
KW  - Molecular Sequence Data
KW  - Platelet Membrane Glycoproteins
KW  - Polymerase Chain Reaction
KW  - RNA Splicing
KW  - genetics
KW  - RNA, Messenger
KW  - blood
KW  - Thrombasthenia
N1  - Publication Type: Case Reports; Journal Article
ER  -