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SAT-360 Out of Sight, out of Mind: PHEX 3’-UTR C.*231A>G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype

Title: Out of Sight, Out of Mind: PHEX 3’-UTR c.*231A>G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype X-linked hypophosphatemia (XLH) is an inherited form of hypophosphatemia that is part of a group of disorders that leads to impaired bo...

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Podrobná bibliografie
Vydáno v:J Endocr Soc
Hlavní autoři: Williams, Alexander, Black, Margo, Dahir, Kathryn
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208542/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.146
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