TY  - JOUR
AU  - Barbetti, Fabrizio
AU  - Cobo-Vuilleumier, Nadia
AU  - Dionisi-Vici, Carlo
AU  - Toni, Sonia
AU  - Ciampalini, Paolo
AU  - Massa, Ornella
AU  - Rodriguez-Bada, Pablo
AU  - Colombo, Carlo
AU  - Lenzi, Lorenzo
AU  - Garcia-Gimeno, María A
AU  - Bermudez-Silva, Francisco J
AU  - Rodriguez de Fonseca, Fernando
AU  - Banin, Patrizia
AU  - Aledo, Juan C
AU  - Baixeras, Elena
AU  - Sanz, Pascual
AU  - Cuesta-Muñoz, Antonio L
PY  - 2009
DO  - 10.1210/me.2009-0094
SN  - 0888-8809
UR  - http://hdl.handle.net/10668/503
T2  - Molecular endocrinology (Baltimore, Md.)
AB  - Glucokinase is essential for glucose-stimulated insulin release from the pancreatic beta-cell, serving as glucose sensor in humans. Inactivating or activating mutations of glucokinase lead to different forms of glucokinase disease, i.e. GCK-monogenic...
LA  - en
PB  - The Endocrine Society
KW  - Femenino
KW  - Predisposición Genética a la Enfermedad
KW  - Humanos
KW  - Hipoglucemia
KW  - Glucoquinasa
KW  - Recién Nacido
KW  - Cinética
KW  - Masculino
KW  - Modelos Teóricos
KW  - Mutagénesis Sitio-Dirigida
KW  - Mutación
KW  - Linaje
KW  - Fenotipo
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Glucokinase
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Glucose Metabolism Disorders::Hypoglycemia
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Infant::Infant, Newborn
KW  - Medical Subject Headings::Phenomena and Processes::Physical Phenomena::Mechanical Phenomena::Kinetics
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Theoretical
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Engineering::Protein Engineering::Mutagenesis, Site-Directed
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Pedigree
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Check Tags::Female
TI  - Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
TY  - research article
ER  -