Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding.
Freson, K
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
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