Article
Genetic screening for X-linked hypophosphatemic mice and ontogenic characterization of the defect in the renal sodium-phosphate transporter.
Pediatric research - 1 Nov 1998
Muller Y L, Collins J F, Ghishan F K
Abstract excerpt
X-linked hypophosphatemic (Hyp) rickets is characterized by short stature, rickets, and bone abnormalities. Biochemically, hypophosphatemia and decreased renal reabsorption of phosphate are the hallmark of the disorder. Mutation of the PEX gene has been linked to human and murine Hyp rickets. Our...
Topics
- Alkaline Phosphatase
- Animals
- Carrier Proteins
- Female
- Humans
- Hypophosphatemia, Familial
- Kidney
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Mutant Strains
- Organophosphates
- Phenotype
- Polymerase Chain Reaction
- RNA, Messenger
- Sodium-Phosphate Cotransporter Proteins
- Symporters