PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets

X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutatio...

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Detalles Bibliográficos
Autores principales: Song, Hae-Ryong, Park, Joo-Won, Cho, Dae-Yeon, Yang, Jae Hyuk, Yoon, Hye-Ran, Jung, Sung-Chul
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2007
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694264/
https://www.ncbi.nlm.nih.gov/pubmed/18162710
http://dx.doi.org/10.3346/jkms.2007.22.6.981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694264/
https://www.ncbi.nlm.nih.gov/pubmed/18162710
http://dx.doi.org/10.3346/jkms.2007.22.6.981

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