Article
A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia.
Blood - 15 Oct 1998
Tadokoro S, Tomiyama Y, Honda S, Arai M, Yamamoto N, Shiraga M, Kosugi S, Kanakura Y, Kurata Y, Matsuzawa Y
Abstract excerpt
To clarify a molecular defect responsible for moderate alphaIIb beta3 deficiency, we examined two unrelated patients, MT and MS, suffering from type II and type I Glanzmann thrombasthenia (GT), respectively. Sequence analysis of polymerase chain reaction (PCR) fragments derived from platelet mRNA...
Topics
- Alleles
- Amino Acid Substitution
- Biological Transport
- Cell Line
- Consensus Sequence
- Female
- Gene Expression Regulation
- Genotype
- Golgi Apparatus
- Humans
- Japan
- Middle Aged
- Mutation, Missense
- Platelet Glycoprotein GPIIb-IIIa Complex
- Point Mutation