A Novel Splicing Mutation in SLC12A3 Associated With Gitelman Syndrome and Idiopathic Intracranial Hypertension

American Journal of Kidney Diseases

Volumn 48, Issue 5, 2006, Pages

  Godefroid, Nathalie ^a   Riveira Munoz, Eva ^a   Saint Martin, Christine ^a   Nassogne, Marie Cécile ^a   Dahan, Karin ^a   Devuyst, Olivier ^a  

^a Center for Human Genetics   (Belgium)

Author keywords

Bartter syndrome; familial cerebral cavernous malformations; Hypokalemia; hypomagnesemia; pseudotumor cerebri; SLC12A3

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; CYTOSINE; GUANINE; IRON BINDING PROTEIN; LEUCINE; RNA; SERINE; SLC12A3 PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BARTTER SYNDROME; BRAIN MALFORMATION; BRAIN PSEUDOTUMOR; CALCIUM URINE LEVEL; CASE REPORT; CHROMOSOME MUTATION; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; DISEASE SEVERITY; DIZYGOTIC TWINS; DNA DETERMINATION; EXON; FEMALE; GENE MUTATION; GITELMAN SYNDROME; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; HYPOKALEMIA; HYPOMAGNESEMIA; IDIOPATHIC DISEASE; INTRACRANIAL HYPERTENSION; KALIURESIS; METABOLIC ALKALOSIS; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; RNA ANALYSIS; SCHOOL CHILD;

ALKALOSIS; BARTTER SYNDROME; CHILD; DISEASES IN TWINS; DIURETICS; DNA MUTATIONAL ANALYSIS; FEMALE; GITELMAN SYNDROME; GROWTH DISORDERS; HUMANS; HYPOKALEMIA; MAGNESIUM DEFICIENCY; MAGNETIC RESONANCE IMAGING; MUTATION; PEDIGREE; PROTEIN SPLICING; PSEUDOTUMOR CEREBRI; RECEPTORS, DRUG; SYMPORTERS; SYNDROME;

EID: 33750994912     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2006.08.005     Document Type: Article

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