Article
X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage.
Journal of inherited metabolic disease - 1 Jan 1992
Scriver C R, Tenenhouse H S
Abstract excerpt
XLH (X-linked hypophosphataemia, gene symbol HYP, McKusick 307800, 307810) and its murine counterparts (Hyp and Gy) map to a conserved segment on the X-chromosome (Xp 22.31-p.21.3, human; distal X, mouse). Gene dosage has received relatively little attention in the long history of research on this disease, which began over 50 years ago. Bone and teeth are sites of the principal disease manifestations in XLH...
Topics
- Animals
- Dosage Compensation, Genetic
- Humans
- Hypophosphatemia, Familial
- Kidney
- Mice
- Organ Specificity
- Phenotype
- Phosphates
- X Chromosome