Identification of fifteen novel PHEX gen
β
Henna Tyynismaa; Ilkka Kaitila; Kirsti NΓ€ntΓΆ-Salonen; Marja Ala-Houhala; Tiina A
π
Article
π
2000
π
John Wiley and Sons
π
English
β 22 KB
π 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