𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genetic linkage studies of X-linked hypophosphataemic rickets in a Saudi Arabian family

✍ Scribed by R. V. Thakker; M. R. Farmery; N. A. Sakatl; R. D. G. Mllner

Book ID
114719566
Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
507 KB
Volume
37
Category
Article
ISSN
0300-0664

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

New markers for linkage analysis of X-li
New markers for linkage analysis of X-linked hypophosphataemic rickets
✍ P. S. N. Rowe; J. Goulding; A. Read; R. Mountford; A. Hanauer; Claudine Oudet; M πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 716 KB

Three polymorphic markers have been used to improve the genetic map of the region Xp22.1-p22.2, which contains the HYP (hypophosphataemic rickets) locus. DXS365 gave no recombinants with HYP, with a peak Lod score of 5.4 at theta = 0.0. A microsatellite marker mPA274 was derived for the DXS274 locus

Activity of renal 25-hydroxyvitamin D3-1
Activity of renal 25-hydroxyvitamin D3-1Ξ±-hydroxylase in a case of X-linked hypophosphataemic rickets
✍ Y. Seino; K. Satomura; K. Yamaoka; Y. Tanaka; H. Tanaka; T. Yamamoto; M. Ishida; πŸ“‚ Article πŸ“… 1984 πŸ› Springer 🌐 English βš– 435 KB

In 1974, a 2-year-old boy was diagnosed as having X-linked hypophosphataemic rickets (XLH) because of severe rickets and hypophosphataemia. The vitamin D metabolite concentrations, blood and urine chemistry and renal 25-hydroxyvitamin D3 (25OHD3)-1 alpha-hydroxylase were measured in 1982 (about 2 we