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F329L polymorphism in the human PAX8 gene

✍ Scribed by Torban, E.; Pelletier, J.; Goodyer, P.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 9 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971017)72:2<186::aid-ajmg11>3.0.co;2-j

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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