Novel truncating mutations in the CIC-5 chloride channel gene in patients with Dent's disease

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Bibliographic Details
Published inNephrology, dialysis, transplantation Vol. 18; no. 4; pp. 717 - 723
Main Authors CARBALLO-TRUJILLO, Irma, GARCIA-NIETO, Victor, MOYA-ANGELER, Francisco J, ANTBN-GAMERO, Montserrat, LORIS, Cesar, MENDEZ-ALVAREZ, Sebastian, CLAVERIE-MARTIN, Felix
Format Journal Article
LanguageEnglish
Published Oxford Oxford University Press 01.04.2003
Subjects
Biological and medical sciences
Medical sciences
Nephrology. Urinary tract diseases
Urinary lithiasis
Kidney disease
Human
Sex linked character
Urinary system disease
CLCNS gene
Chlorine ion
Ionic channel
X-linked renal disease
Dent's disease
Genetic determinism
Kidney
Urinary stone
Genetic disease
Case study
Hypercalciuria
Gene
Lithiasis
chloride channel 5 (CIC-5)
X-Chromosome
Mutation
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ISSN:0931-0509
1460-2385