A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene

Pediatric Nephrology

Volumn 13, Issue 4, 1999, Pages 278-283

  Bosio, Maurizio ^a   Bianchi, Maria Luisa ^b   Lloyd, Sarah E ^c   Thakker, Rajesh V ^c  

^a Magenta Hospital   (Italy)

^b ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Chloride channel gene; Hypercalciuria; Microglobulinuria; Nephrocalcinosis; Osteopenia; Renal familial syndrome; Renal phosphate leak

Indexed keywords

CALCITRIOL; CHLORIDE CHANNEL; PHOSPHATE;

ADOLESCENT; ADULT; ARTICLE; BONE MASS; CASE REPORT; CHILD; DIET SUPPLEMENTATION; GENE MUTATION; GLOMERULUS FILTRATION RATE; HUMAN; HYPERCALCIURIA; INFANT; INHERITANCE; KIDNEY CALCIFICATION; KIDNEY CONCENTRATING CAPACITY; KIDNEY FUNCTION; KIDNEY TUBULE ABSORPTION; MALE; NEWBORN; OSTEOPENIA; PHOSPHATE BLOOD LEVEL; PHOSPHATE URINE LEVEL; PRIORITY JOURNAL; PROTEINURIA; STOP CODON; X CHROMOSOME LINKAGE;

CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; FEMALE; GLOMERULAR FILTRATION RATE; HUMANS; INFANT, NEWBORN; KIDNEY CONCENTRATING ABILITY; KIDNEY DISEASES; LINKAGE (GENETICS); MALE; MUTATION; SYNDROME; VITAMIN D; X CHROMOSOME;

EID: 0032981673     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050608     Document Type: Article

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