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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
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Acesso em linha: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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