Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred with Anemia, Hyperuricemia, and CKD

Homozygous or compound heterozygous Renin (REN) mutations cause renal tubular dysgenesis (RTD), which is characterized by death in utero due to renal failure and pulmonary hypoplasia. The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor bloc...

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Detalhes bibliográficos
Main Authors: Beck, Bodo B., Trachtman, Howard, Gitman, Michael, Miller, Ilene, Sayer, John A., Pannes, Andrea, Baasner, Anne, Hildebrandt, Friedhelm, Wolf, Matthias T.F.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3366501/
https://ncbi.nlm.nih.gov/pubmed/21903317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.ajkd.2011.06.029
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