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

1 févr. 2019The American Journal of Human Genetics

DOI : 10.1016/j.ajhg.2018.12.016

Auteurs

Guillaume Dorval, Valeryia Kuzmuk, Olivier Gribouval, Gavin I. Welsh, Agnieszka Bierzynska, Alain Schmitt, Stéphanie Miserey-Lenkei, Ania Koziell, Shuman Haq, Alexandre Benmerah, Géraldine Mollet, Olivia Boyer, Moin A. Saleem, Corinne Antignac