Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of calcium oxalate primarily in the kidney. Deficiencies of alanine-glyoxylate aminotransferase (AGT) or glyoxylate reductase (GRHPR) are the two known causes of the disease (P...

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Detalhes bibliográficos
Main Authors: Belostotsky, Ruth, Seboun, Eric, Idelson, Gregory H., Milliner, Dawn S., Becker-Cohen, Rachel, Rinat, Choni, Monico, Carla G., Feinstein, Sofia, Ben-Shalom, Efrat, Magen, Daniella, Weissman, Irith, Charon, Celine, Frishberg, Yaacov
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2933339/
https://ncbi.nlm.nih.gov/pubmed/20797690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.07.023
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