Article
A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Nov 2020
Martins L, Dos Santos E L, de Almeida A B, Machado R A, Lyrio A M, Foster B L, Kantovitz K R, Coletta R D, Nociti F H
Abstract excerpt
Using genetic, clinical, biochemical, and radiographic assessment and bioinformatic approaches, we present an unusual case of adult HPP caused by a novel de novo heterozygous nonsense mutation in the alkaline phosphatase (ALPL). INTRODUCTION: Hypophosphatasia (HPP) is caused by genetic alterations of the ALPL gene, encoding the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Here, the purpose was to...
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