Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene-Reference-Cited by-同舟云学术

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene

Published:2019-07-02 Issue:1 Volume:9 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

García-Fontana Cristina,Villa-Suárez Juan M.,Andújar-Vera Francisco,González-Salvatierra Sheila,Martínez-Navajas Gonzalo,Real Pedro J.^ORCID,Gómez Vida José M.,de Haro Tomás,García-Fontana Beatriz,Muñoz-Torres Manuel

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-019-46004-2.pdf

Reference41 articles.

1. Mornet, E., Yvard, A., Taillandier, A., Fauvert, D. & Simon-Bouy, B. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann. Hum. Genet. 75, 439–445 (2011).

2. ALPL gene mutations database. Available at, http://www.sesep.uvsq.fr/03_hypo_mutations.php . (Accessed: 30th October 2018).

3. Galeano-Valle, F., Vengoechea, J. & Galindo, R. J. A rare mutation in hypophosphatasia: a case report of adult form and review of the literature. Arch. Endocrinol. Metab. 63, 89–93 (2019).

4. Whyte, M. P. et al. Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone 75, 229–239 (2015).

5. Whyte, M. P. Hypophosphatasia: An overview For 2017. Bone, https://doi.org/10.1016/j.bone.2017.02.011 (2017).

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