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Clinical features and gene mutation analysis of patients with hypophosphatemic rickets

✍ Scribed by Wei-Bo Xia; Yue Sun; Xiao-Dong He; Yan Jiang; Ming Nie; Mei Li; Ou Wang; Xiao-Ping Xing; Xun-Wu Meng; Xue-Ying Zhou

Book ID
116323661
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
48 KB
Volume
47
Category
Article
ISSN
8756-3282

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Identification of fifteen novel PHEX gen
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets
✍ 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