TY  - JOUR
AU  - Claverie-Martín, Félix
AU  - García-Nieto, Víctor
AU  - Loris, César
AU  - Ariceta, Gema
AU  - Nadal, Inmaculada
AU  - Espinosa, Laura
AU  - Fernández-Maseda, Ángeles
AU  - Antón-Gamero, Montserrat
AU  - Ávila, África
AU  - Madrid, Álvaro
AU  - González-Acosta, Hilaria
AU  - Córdoba-Lanus, Elizabeth
AU  - Santos, Fernando
AU  - Gil-Calvo, Marta
AU  - Espino, Mar
AU  - García-Martínez, Elena
AU  - Sánchez, Ana
AU  - Muley, Rafael
PY  - 2013
DO  - 10.1371/journal.pone.0053151
UR  - http://hdl.handle.net/10668/1714
T2  - PloS one
AB  - Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the...
LA  - en
PB  - PLOS ONE Editorial Board
KW  - Kidneys
KW  - Magnesium
KW  - Mutation detection
KW  - Polymerase chain reaction
KW  - Renal transplantation
KW  - Substitution mutation
KW  - Riñones
KW  - Magnesio
KW  - Detección de mutaciones
KW  - Reacción en cadena de la polimerasa
KW  - Transplante renal
KW  - Mutación de sustitución
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Young Adult
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Child::Child, Preschool
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Claudins
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies
KW  - Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes
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::Female Urogenital Diseases and Pregnancy Complications::Female Urogenital Diseases::Urologic Diseases::Kidney Diseases::Kidney Diseases, Cystic::Polycystic Kidney Diseases
KW  - Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Nutrition Disorders::Malnutrition::Deficiency Diseases::Magnesium Deficiency
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Theoretical::Models, Biological::Models, Genetic
KW  - Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Calcinosis::Nephrocalcinosis
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype::Endophenotypes
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic
KW  - Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Young Adult
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent
TI  - Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
TY  - research article
ER  -