A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.
Luciane MartinsE L Dos SantosA B de AlmeidaR A MachadoA M LyrioB L FosterK R KantovitzR D ColettaF H NocitiPublished in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2020)
The present study describes a novel genotype-phenotype and structure-function relationship for HPP, contributing to a better molecular comprehension of HPP etiology and pathophysiology.
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