Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene

Human disorders of phosphate (Pi) handling and hypophosphatemic rickets have been shown to result from mutations in PHEX, FGF23, and DMP1, presenting as X-linked recessive, autosomal-dominant, and autosomal-recessive patterns, respectively. We present the identification of an inactivating mutation i...

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Bibliografiske detaljer
Main Authors: Levy-Litan, Varda, Hershkovitz, Eli, Avizov, Luba, Leventhal, Neta, Bercovich, Dani, Chalifa-Caspi, Vered, Manor, Esther, Buriakovsky, Sophia, Hadad, Yair, Goding, James, Parvari, Ruti
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2010
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2820183/
https://ncbi.nlm.nih.gov/pubmed/20137772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.01.010
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