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

Nom de la revue
The American Journal of Human Genetics
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