載入...

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...

全面介紹

Na minha lista:
書目詳細資料
發表在:Case Rep Genet
Main Authors: Kawahara, Tetsuya, Watanabe, Hiromi, Omae, Risa, Yamamoto, Toshiyuki, Inazu, Tetsuya
格式: Artigo
語言:Inglês
出版: Hindawi Publishing Corporation 2015
主題:
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!