Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene

Nephrology Dialysis Transplantation

Volumn 16, Issue 1, 2001, Pages 48-51

  Van Den Heuvel, Lambert ^a   Op De Koul, Katja ^a   Knots, Edwin ^b   Knoers, Nine ^a   Monnens, Leo ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CATHARINA HOSPITAL   (Netherlands)

Author keywords

Hypophosphataemic rickets with hypercalciuria; Mutation detection; Sodium phosphate cotransporter gene type II

Indexed keywords

ARGININE; CARRIER PROTEIN; DNA; HISTIDINE; PHOSPHATE; SODIUM;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; DNA SEQUENCE; FAMILY STUDY; FEMALE; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; HYPERCALCIURIA; HYPOPHOSPHATEMIA; HYPOTHESIS; MALE; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; STRUCTURE ANALYSIS; VITAMIN D RESISTANT RICKETS;

EID: 0035160055     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/16.1.48     Document Type: Article

References (7)

1. Positional cloning of the PEX gene: New insights into the pathophysiology of X-linked hypophosphatemic rickets
2. 'Idiopathic' hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect
3. Cellular/molecular control of renal Na/Pi cotransport
4. Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal anomalies
5. + phosphate cotransporter
6. Renal threshold phosphate concentrations
7. Sodium-dependent phosphate cotransporters