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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...
Autores principales: | Michaud, Annie, Acharya, K. Ravi, Masuyer, Geoffrey, Quenech'du, Nicole, Gribouval, Olivier, Morinière, Vincent, Gubler, Marie-Claire, Corvol, Pierre |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929087/ https://www.ncbi.nlm.nih.gov/pubmed/24163131 http://dx.doi.org/10.1093/hmg/ddt535 |
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