Browsing Duke Faculty Articles by Subject "joubert-syndrome"

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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Davis, Erica; Katsanis, Nicholas (AMER SOC CLINICAL INVESTIGATION INC, 2010)

The autosomal recessive kidney disease nephronophthisis (NPHP) consdtutes the most frequent genetic cause of terminal renal failure in the first 3 decades of life. Ten causative genes (NPHP1-NPHP9 and NPHP11), whose products ...