TY  - JOUR
AU  - García Castaño, Alejandro
AU  - Pérez de Nanclares, Gustavo
AU  - Madariaga, Leire
AU  - Aguirre, Mireia
AU  - Madrid, Álvaro
AU  - Chocrón, Sara
AU  - Nadal, Inmaculada
AU  - Navarro, Mercedes
AU  - Lucas, Elena
AU  - Fijo, Julia
AU  - Espino, Mar
AU  - Espitaletta, Zilac
AU  - García Nieto, Víctor
AU  - Barajas de Frutos, David
AU  - Loza, Reyner
AU  - Pintos, Guillem
AU  - Castaño, Luis
AU  - Ariceta, Gema
PY  - 2017
DO  - 10.1371/journal.pone.0173581
UR  - http://hdl.handle.net/10668/2629
T2  - PloS One
AB  - Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic...
LA  - en
PB  - Public Library of Science
KW  - Alcalosis
KW  - Alelos
KW  - Síndrome de bartter
KW  - Canales de cloruro
KW  - Deshidratación
KW  - Exones
KW  - Genotipo
KW  - Humanos
KW  - Hipercalciuria
KW  - Hipopotasemia
KW  - Intrones
KW  - Nefrocalcinosis
KW  - Polidipsia
KW  - Reacción en cadena de la polimerasa
KW  - Remisión y consulta
KW  - Eliminación de secuencia
KW  - Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Acid-Base Imbalance::Alkalosis
KW  - Medical Subject Headings::Diseases::Endocrine System Diseases::Adrenal Gland Diseases::Adrenocortical Hyperfunction::Hyperaldosteronism::Bartter Syndrome
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Chloride Channels
KW  - Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::Dehydration
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Urological Manifestations::Hypercalciuria
KW  - Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::Hypokalemia
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::DNA, Intergenic::Introns
KW  - Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Calcinosis::Nephrocalcinosis
KW  - Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Polydipsia
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction
KW  - Medical Subject Headings::Health Care::Health Services Administration::Organization and Administration::Professional Practice::Referral and Consultation
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Sequence Deletion
TI  - Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
TY  - research article
ER  -