A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS
纤毛基因TTC21B的纯合错义突变会导致家族性局灶节段性肾小球硬化症(FSGS)。
期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.2013101126
Huynh Cong, Evelyne; Bizet, Albane A; Boyer, Olivia; Woerner, Stéphanie; Gribouval, Olivier; Filhol, Emilie; Arrondel, Christelle; Thomas, Sophie; Silbermann, Flora; Canaud, Guillaume; Hachicha, Jamil; Ben Dhia, Nasr; Peraldi, Marie-Noëlle; Harzallah, Kais; Iftene, Daouia; Daniel, Laurent; Willems, Marjolaine; Noel, Laure-Hélène; Bole-Feysot, Christine; Nitschké, Patrick; Gubler, Marie-Claire; Mollet, Géraldine; Saunier, Sophie; Antignac, Corinne