Identification of fifteen novel PHEX gen
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Henna Tyynismaa; Ilkka Kaitila; Kirsti Näntö-Salonen; Marja Ala-Houhala; Tiina A
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Article
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2000
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John Wiley and Sons
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English
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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