Truncating mutations in the chloride/proton clc-5 antiporter gene in seven jewish israeli families with dent's 1 disease

Nephron - Clinical Practice

Volumn 112, Issue 4, 2009, Pages

  Dinour, Dganit ^a   Davidovitz, Miriam ^b   Levin Iaina, Nomy ^a   Lotan, Danny ^a   Cleper, Roxana ^b   Weissman, Irith ^c   Knecht, Aaron ^a   Holtzman, Eli J ^a  

^a SHEBA MEDICAL CENTER   (Israel)

^b Schnieder Medical Center   (Israel)

^c Department of Pediatric Nephrology ^*  (Japan)

Author keywords

Chloride proton antiporter; ClC 5; CLCN5 gene; Dent's disease; Hypercalciuria; Nephrocalcinosis

Indexed keywords

ANTIPORTER; CHLORIDE; PROTON;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLCN5 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; DENT DISEASE; DISEASE ASSOCIATION; FAMILY; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HUMAN; HYPERCALCIURIA; ISRAEL; KIDNEY CALCIFICATION; KIDNEY FAILURE; KIDNEY TUBULE DISORDER; LOW MOLECULAR WEIGHT PROTEINURIA; MALE; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INCIDENCE; ISRAEL; JUDAISM; KIDNEY DISEASES; MALE; YOUNG ADULT;

EID: 67449161453     PISSN: 16602110     EISSN: None     Source Type: Journal    
DOI: 10.1159/000224793     Document Type: Article

References (23)

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