Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

OBJECTIVE: Hypophosphatemic rickets (HR) is a heterogeneous genetic phosphate wasting disorder. The disease is most commonly caused by mutations in the PHEX gene located on the X-chromosome or by mutations in CLCN5, DMP1, ENPP1, FGF23, and SLC34A3. The aims of this study were to perform molecular di...

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Detalles Bibliográficos
Autores principales: Ma, Sara L., Vega-Warner, Virginia, Gillies, Christopher, Sampson, Matthew G., Kher, Vijay, Sethi, Sidharth K., Otto, Edgar A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479593/
https://www.ncbi.nlm.nih.gov/pubmed/26107949
http://dx.doi.org/10.1371/journal.pone.0130729

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479593/
https://www.ncbi.nlm.nih.gov/pubmed/26107949
http://dx.doi.org/10.1371/journal.pone.0130729

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