Molecular genetic analysis of Steroid Resistant Nephrotic Syndrome: Detection of a novel mutation
Niloofar Serajpour, Behnaz Karimi, Nakysa Hooman, Rozita Hosseini, Pedram Khosravi, Hila Milo Rasouly, Azadeh Shojaei
The paper identifies a novel mutation in FAT1 and pathogenic mutations in NPHS2 among SRNS patients, suggesting the need for WES after NPHS2 screening.
bioRxiv · Apr 22, 2018 · PreprintGenetics