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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Ma, Sara L., Vega-Warner, Virginia, Gillies, Christopher, Sampson, Matthew G., Kher, Vijay, Sethi, Sidharth K., Otto, Edgar A.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4479593/
https://ncbi.nlm.nih.gov/pubmed/26107949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0130729
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