Article
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Human mutation - 1 Jul 2003
Spentchian M, Merrien Y, Herasse M, Dobbie Z, Gläser D, Holder S E, Ivarsson S-A, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite J-L, van der Smagt J J, Serre J-L, Simon-Bouy B, Taillandier A, Mornet E
Abstract excerpt
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...
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