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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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מידע ביבליוגרפי
Main Authors: Song, Hae-Ryong, Park, Joo-Won, Cho, Dae-Yeon, Yang, Jae Hyuk, Yoon, Hye-Ran, Jung, Sung-Chul
פורמט: Artigo
שפה:Inglês
יצא לאור: The Korean Academy of Medical Sciences 2007
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694264/
https://ncbi.nlm.nih.gov/pubmed/18162710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2007.22.6.981
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