Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)

X‐linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X chromosome. XLH is inherited in an X‐linked pattern with complete penetrance observed for both males and females. Patients experience lifelong sym...

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Detalles Bibliográficos
Autores principales: Sarafrazi, Soodabeh, Daugherty, Sean C., Miller, Nicole, Boada, Patrick, Carpenter, Thomas O., Chunn, Lauren, Dill, Kariena, Econs, Michael J., Eisenbeis, Scott, Imel, Erik A., Johnson, Britt, Kiel, Mark J., Krolczyk, Stan, Ramesan, Prameela, Truty, Rebecca, Sabbagh, Yves
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299612/
https://www.ncbi.nlm.nih.gov/pubmed/34806794
http://dx.doi.org/10.1002/humu.24296

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299612/
https://www.ncbi.nlm.nih.gov/pubmed/34806794
http://dx.doi.org/10.1002/humu.24296

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