Article
Multilocus mapping of the X-linked hypophosphatemic rickets gene.
The Journal of clinical endocrinology and metabolism - 1 Jul 1992
Econs M J, Barker D F, Speer M C, Pericak-Vance M A, Fain P R, Drezner M K
Abstract excerpt
X-linked hypophosphatemic rickets (HYP), the most common form of familial hypophosphatemic (vitamin D-resistant) rickets, is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia. Despite the application of a wide variety of biochemical and cell biology techniques, controversy exists regarding whether a primary renal abnormality underlies the...
Topics
- Alleles
- Chromosome Mapping
- Family Health
- Female
- Genetic Markers
- Humans
- Hypophosphatemia, Familial
- Male
- Pedigree
- Polymorphism, Restriction Fragment Length
- Recombination, Genetic
