Article
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
Human mutation - 1 Apr 2000
Tyynismaa H, Kaitila I, Näntö-Salonen K, Ala-Houhala M, Alitalo T
Abstract excerpt
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 which 15 were novel. We report also a new polymorphism 46bp upstream of exon 16. Two families were segregating the...
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