Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome.
Simsek, S
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
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