SLSNSecondary Literacy Support Network
References in periodicals archive ?
112,113) NPHP4 interacts with NPHP1, and loss-of-function protein truncating mutations were found in SLSN type 4 patients with retinitis pigmentosa (RP).
As mentioned previously, syndromes such as JBTS, SLSN (Leber congenital amaurosis), and Meckel-Gruber syndrome are encoded by genes whose protein products colocalize with most nephronophthisis responsible genes.
2 447 kDa PKD Autosomal Recessive Nephronophthisis NPHP 1/JBTS 4/ NPHP1 Nephrocystin-1 SLSN 1 2q13 83.