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Multicenter Study
. 2003 Jul;22(1):105-6.
doi: 10.1002/humu.9159.

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene

M Spentchian  1 , Y Merrien, M Herasse, Z Dobbie, D Gläser, S E Holder, S-A Ivarsson, D Kostiner, S Mansour, A Norman, J Roth, F Stipoljev, J-L Taillemite, J J van der Smagt, J-L Serre, B Simon-Bouy, A Taillandier, E Mornet
Affiliations
Multicenter Study

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene

M Spentchian et al. Hum Mutat. 2003 Jul.

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.

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