F329L polymorphism in the human PAX8 gene
E Torban, J Pelletier, P Goodyer - American journal of medical …, 1997 - Wiley Online Library
E Torban, J Pelletier, P Goodyer
American journal of medical genetics, 1997•Wiley Online LibraryWe 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. Am. J. Med. Genet. 72: 186–187, 1997.© 1997 Wiley‐
Liss, Inc.
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. Am. J. Med. Genet. 72: 186–187, 1997.© 1997 Wiley‐
Liss, Inc.
Abstract
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. Am. J. Med. Genet. 72:186–187, 1997. © 1997 Wiley‐Liss, Inc.
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