Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding. [electronic resource]
- Thrombosis and haemostasis Sep 2001
- 733-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0340-6245
Abnormalities, Multiple--genetics Adenosine--pharmacology Adenylyl Cyclases--metabolism Adolescent Alprostadil--pharmacology Alternative Splicing Amino Acid Sequence Amino Acid Substitution Bleeding Time Blood Platelets--physiology Child Chromogranins Cyclic AMP--biosynthesis Female Fingers--abnormalities GTP-Binding Protein alpha Subunits, Gs--genetics Gene Frequency Genomic Imprinting Hemorrhagic Disorders--epidemiology Heterotrimeric GTP-Binding Proteins Humans Hyperkinesis--genetics Hypoparathyroidism--genetics Iloprost--pharmacology Intellectual Disability--genetics Male Molecular Sequence Data Muscle Hypotonia--genetics Mutagenesis, Insertional Nerve Tissue Proteins Phenotype Platelet Aggregation--drug effects Platelet Function Tests Polymorphism, Genetic Protein Subunits Repetitive Sequences, Amino Acid Risk Factors Second Messenger Systems Structure-Activity Relationship Wounds and Injuries--complications