Molecular analysis of the CLCN5 gene in Dent's disease: First mutation identified in a patient from South America

Clinical Nephrology

Volumn 68, Issue 6, 2007, Pages 367-372

  Ramos Trujillo, E ^a   Garcia Nieto, V ^a   Gonzalez Acosta, H ^a   Vara, J ^b   Perez Diaz V ^c   Nadal, I ^d   Oliveros, R ^e   Claverie Martin, F ^a  

^a HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c HOSPITAL CLÍNICO UNIVERSITARIO DE VALLADOLID   (Spain)

^d Universidad Pública de Navarra   (Spain)

^e HOSPITAL DE CRUCES   (Spain)

Author keywords

CIC 5 exchanger; Mutation; Renal tubulopathy; South American

Indexed keywords

CHLORIDE CHANNEL; LEUCINE; PROLINE; PROTEIN CLCN5; TYROSINE; UNCLASSIFIED DRUG;

ADOLESCENT; ALPHA HELIX; ARTICLE; BOLIVIA; CASE REPORT; CHILD; CHRONIC KIDNEY FAILURE; DNA SEQUENCE; ECHOGRAPHY; FAMILY; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERCALCIURIA; KIDNEY BIOPSY; KIDNEY CALCIFICATION; KIDNEY SCINTISCANNING; KIDNEY TUBULE DISORDER; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEINURIA; SOUTH AMERICA; SPAIN;

EID: 37149017937     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/cnp68367     Document Type: Article

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