Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome. [electronic resource]
- Thrombosis and haemostasis Sep 1994
- 444-9 p. digital
Publication Type: Case Reports; Comparative Study; Journal Article
0340-6245
Adult Alleles Amino Acid Sequence Base Composition Base Sequence Bernard-Soulier Syndrome--genetics DNA Mutational Analysis Female Genes Homozygote Humans Male Molecular Sequence Data Pedigree Platelet Membrane Glycoproteins--deficiency Polymerase Chain Reaction Receptors, Cell Surface--deficiency Sequence Alignment Sequence Deletion von Willebrand Factor--metabolism