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Absence of cell surface expression of human ACE leads to perinatal death

Renal tubular dysgenesis (RTD) is a recessive autosomal disease characterized most often by perinatal death. It is due to the inactivation of any of the major genes of the renin-angiotensin system (RAS), one of which is the angiotensin I-converting enzyme (ACE). ACE is present as a tissue-bound enzy...

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Detalhes bibliográficos
Main Authors: Michaud, Annie, Acharya, K. Ravi, Masuyer, Geoffrey, Quenech'du, Nicole, Gribouval, Olivier, Morinière, Vincent, Gubler, Marie-Claire, Corvol, Pierre
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3929087/
https://ncbi.nlm.nih.gov/pubmed/24163131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt535
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