We screened patients with juvenile nephronophthisis for mutations of the tightly linked PAX8 gene. No disease-associated mutations were found, but we identified the first known human PAX8 polymorphism, F329L, in 1 of 15 patients and 2 of 20 controls. This polymorphic variant involves a conservative amino acid change (phenylalanine to leucine) in the C-terminal portion of the PAX8 protein.

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