TY - JOUR AU - García Fontana, Cristina AU - Villa Suárez, Juan M. AU - Andujar Vera, Francisco AU - González Salvatierra, Sheila AU - Martínez Navajas, Gonzalo AU - Real, Pedro J. AU - Gómez Vida, José María AU - de Haro, Tomas AU - García Fontana, Beatriz AU - Muñoz Torres, Manuel Eduardo PY - 2019 UR - http://hdl.handle.net/10481/57335 AB - Hypophosphatasia (HPP) is a genetic disease caused by one or several mutations in ALPL gene encoding the tissue-nonspecific alkaline phosphatase affecting the mineralization process. Due to its low prevalence and lack of recognition, this metabolic... LA - eng PB - Scientific Reports TI - Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene DO - 10.1038/s41598-019-46004-2 ER -