Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: Novel mutations in TRPM6 and CLDN16 genes

Nephrology Dialysis Transplantation

Volumn 27, Issue 2, 2012, Pages 667-673

  Guran, Tulay ^a   Akcay, Teoman ^a   Bereket, Abdullah ^a   Atay, Zeynep ^a   Turan, Serap ^a   Haisch, Lea ^b   Konrad, Martin ^b   Schlingmann, Karl P ^b  

^a MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

claudin 16; CLDN16; familial hypomagnesaemia; TRPM6

Indexed keywords

CALCITRIOL; CALCIUM; MAGNESIUM; MAGNESIUM SULFATE; PARATHYROID HORMONE; VITAMIN D;

ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; CALCIUM BLOOD LEVEL; CHILD; CLDN16 GENE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CONVULSION; DISEASE COURSE; DISEASE SEVERITY; DRUG INTERMITTENT THERAPY; ETHNIC GROUP; FAMILIAL DISEASE; FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HYPERCALCIURIA; HYPERPARATHYROIDISM; HYPOCALCEMIA; HYPOMAGNESEMIA; INFANT; KIDNEY CALCIFICATION; LABORATORY DIAGNOSIS; LABORATORY TEST; MAGNESIUM BLOOD LEVEL; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONHUMAN; PARATHYROID HORMONE BLOOD LEVEL; PHENOTYPE; PRIORITY JOURNAL; TETANY; TRPM6 GENE; TURKISH;

ADOLESCENT; AGE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; CLAUDINS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERCALCIURIA; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; MUTATION; NEPHROCALCINOSIS; PEDIGREE; PHENOTYPE; RENAL TUBULAR TRANSPORT, INBORN ERRORS; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX; SEX DISTRIBUTION; TRPM CATION CHANNELS; TURKEY;

EID: 82755161829     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfr300     Document Type: Article

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