Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function
Luis Vázquez-Fonseca(Centro Andaluz de Biología del Desarrollo), Leonardo Salviati(University of Padua), Eva Trevisson(University of Padua), Geppo Sartori(University of Padua), Shazia Ashraf(Riphah International University), M.J. Acosta(Città della Speranza Foundation), Mara Doimo(University of Padua), Matteo Cassina(University of Padua), Friedhelm Hildebrandt(Boston Children's Hospital), Cristina Calderan(Città della Speranza Foundation), Cristina Cerqua(Città della Speranza Foundation), María Andrea Desbats(University of Padua), Plácido Navas(Centro Andaluz de Biología del Desarrollo)
Cited by 51
Related Papers
Ciliopathies
|New England Journal of Medicine|2011|1.4k
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
|Nature Genetics|2019|1.2k
A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
|Journal of the American Society of Nephrology|2014|660
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
|Nature Genetics|2011|658