TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

Steroid-resistant nephrotic syndrome (SRNS) is characterized by high-range proteinuria and most often focal and segmental glomerulosclerosis (FSGS). Identification of mutations in genes causing SRNS has improved our understanding of disease mechanisms and highlighted defects in the podocyte, a highl...

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Publicat a:Am J Hum Genet
Autors principals: Dorval, Guillaume, Kuzmuk, Valeryia, Gribouval, Olivier, Welsh, Gavin I., Bierzynska, Agnieszka, Schmitt, Alain, Miserey-Lenkei, Stéphanie, Koziell, Ania, Haq, Shuman, Benmerah, Alexandre, Mollet, Géraldine, Boyer, Olivia, Saleem, Moin A., Antignac, Corinne
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
Matèries:
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6369567/
https://ncbi.nlm.nih.gov/pubmed/30661770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.12.016
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