𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

✍ Scribed by Shoji Ichikawa; Elizabeth A. Traxler; Selina A. Estwick; Leah R. Curry; Michelle L. Johnson; Andrea H. Sorenson; Erik A. Imel; Michael J. Econs


Book ID
116320670
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
806 KB
Volume
43
Category
Article
ISSN
8756-3282

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of fifteen novel PHEX gen
✍ Henna Tyynismaa; Ilkka Kaitila; Kirsti NΓ€ntΓΆ-Salonen; Marja Ala-Houhala; Tiina A πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 22 KB πŸ‘ 2 views

We have carried out a mutation screening of the PHEX gene in Finnish patients with hypophosphatemia. A total of 100% (5/5) of the familial HYP patients (X-linked hypophosphatemia) and 93% (14/15) of the sporadic cases were found to carry a mutation in the PHEX gene. We identified 18 mutations, of wh