TY  - GEN
AU  - Simsek,S
AU  - Admiraal,L G
AU  - Modderman,P W
AU  - van der Schoot,C E
AU  - von dem Borne,A E
TI  - Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome
SN  - 0340-6245
PY  - 1995///0314
KW  - Adult
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Base Composition
KW  - Base Sequence
KW  - Bernard-Soulier Syndrome
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genes
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Platelet Membrane Glycoproteins
KW  - deficiency
KW  - Polymerase Chain Reaction
KW  - Receptors, Cell Surface
KW  - Sequence Alignment
KW  - Sequence Deletion
KW  - von Willebrand Factor
KW  - metabolism
N1  - Publication Type: Case Reports; Comparative Study; Journal Article
ER  -