The Molecular Genetics of Gordon Syndrome

Gordon syndrome is a rare inherited monogenic form of hypertension, which is associated with hyperkalaemia and metabolic acidosis. Since the recognition of this predominantly autosomal dominant condition in the 1960s, the study of families with Gordon syndrome has revealed four genes , , , and to be...

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Veröffentlicht in:	Genes 2019-11, Vol.10 (12), p.986
Hauptverfasser:	Mabillard, Holly, Sayer, John A
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - metabolism Arthrogryposis - genetics Blood pressure Cerebrovascular disease Chloride Chromosomes Cleft Palate - genetics Clinical aspects Clubfoot - genetics Congenital diseases Cullin Cullin Proteins - genetics Cullin Proteins - metabolism Diuretics Electrolytes Genetic Predisposition to Disease Genotype & phenotype Genotypes Hand Deformities, Congenital - genetics Hormones Humans Hyperplasia Hypertension Kidneys Kinases Metabolic acidosis Metabolism Microfilament Proteins - genetics Microfilament Proteins - metabolism Mutation Phenotypes Phosphorylation Potassium Protein Binding Protein-Serine-Threonine Kinases - genetics Protein-Serine-Threonine Kinases - metabolism Review Sodium Sodium chloride WNK Lysine-Deficient Protein Kinase 1 - genetics WNK Lysine-Deficient Protein Kinase 1 - metabolism
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