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A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromos...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Case Rep Genet
Egile Nagusiak: Kawahara, Tetsuya, Watanabe, Hiromi, Omae, Risa, Yamamoto, Toshiyuki, Inazu, Tetsuya
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Hindawi Publishing Corporation 2015
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4377384/
https://ncbi.nlm.nih.gov/pubmed/25861491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/301264
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