Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability

Mutations in the phosphate-regulating endopeptidase homolog, X-linked, gene (PHEX), which encodes a zinc-dependent endopeptidase that is involved in bone mineralization and renal phosphate reabsorption, cause the most common form of hypophosphatemic rickets, X-linked hypophosphatemic rickets (XLH)....

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Detalles Bibliográficos
Autores principales: Jap, Tjin-Shing, Chiu, Chih-Yang, Niu, Dau-Ming, Levine, Michael A.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2011
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3075400/
https://www.ncbi.nlm.nih.gov/pubmed/21293852
http://dx.doi.org/10.1007/s00223-011-9465-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3075400/
https://www.ncbi.nlm.nih.gov/pubmed/21293852
http://dx.doi.org/10.1007/s00223-011-9465-5

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