Article
The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene.
Blood - 1 Aug 1995
Schlegel N, Gayet O, Morel-Kopp M C, Wyler B, Hurtaud-Roux M F, Kaplan C, Mc Gregor J
Abstract excerpt
Glanzmann's thrombasthenia is a rare inherited bleeding disorder caused by a qualitative or quantitative defect of platelet alpha IIb beta 3. We describe here a new mutation that is the molecular genetic basis of Glanzmann's thrombasthenia in two gypsy families. Our investigation was focused on t...
Topics
- Alleles
- Base Sequence
- Blood Platelets
- DNA Primers
- Ethnicity
- Female
- France
- Gene Expression Regulation
- Genes
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Platelet Membrane Glycoproteins
- Point Mutation
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger