1. |
- Spentchian, M, et al.
(författare)
-
Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
- 2003
-
Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 22:1, s. 105-106
-
Tidskriftsartikel (refereegranskat)abstract
- Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia. Sixteen distinct mutations were found, fifteen of them not previously reported: M45V, G46R, 388-391delGTAA, 389delT, T131I, G145S, D172E, 662delG, G203A, R255L, 876-881delAGGGGA, 962delG, E294K, E435K, and A451T. This confirms that severe hypophosphatasia is due to a large spectrum of mutations in Caucasian populations.
|
|