Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

X-linked hypophosphataemia (XLH) is an X-linked dominant rare disease that refers to the most common hereditary hypophosphatemia (HH) caused by mutations in the phosphate-regulating endopeptidase homolog X-linked gene (PHEX; OMIM: * 300550). However, mutations that have already been reported cannot...

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Detalles Bibliográficos
Autores principales: Yang, Yanting, Wang, Yuanda, Shen, Ying, Liu, Mohan, Dai, Siyu, Wang, Xiaodong, Liu, Hongqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891598/
https://www.ncbi.nlm.nih.gov/pubmed/35251124
http://dx.doi.org/10.3389/fgene.2022.792183

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891598/
https://www.ncbi.nlm.nih.gov/pubmed/35251124
http://dx.doi.org/10.3389/fgene.2022.792183

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