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]
Producer: 19950314Description: 444-9 p. digitalISSN:- 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
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Publication Type: Case Reports; Comparative Study; Journal Article
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