TY  - JOUR
AU  - García-Fontana, Cristina
AU  - Villa-Suárez, Juan M
AU  - Andújar-Vera, Francisco
AU  - González-Salvatierra, Sheila
AU  - Martínez-Navajas, Gonzalo
AU  - Real, Pedro J
AU  - Gómez Vida, José M
AU  - de Haro, Tomás
AU  - García-Fontana, Beatriz
AU  - Muñoz-Torres, Manuel
PY  - 2019
DO  - 10.1038/s41598-019-46004-2
UR  - http://hdl.handle.net/10668/14212
T2  - Scientific reports
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  - en
KW  - Adolescent
KW  - Adult
KW  - Age Factors
KW  - Aged
KW  - Alkaline Phosphatase
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Hypophosphatasia
KW  - Male
KW  - Middle Aged
KW  - Models, Molecular
KW  - Mutation
KW  - Phenotype
KW  - Population Surveillance
KW  - Spain
KW  - Structure-Activity Relationship
KW  - Young Adult
TI  - Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
TY  - research article
VL  - 9
ER  -