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A mutation c.C2812T in the androgen receptor gene resulting in Pro817Leu substitution may affect dimerization of the androgen receptor and result in androgen insensitivity syndrome
Authors:Turek-Plewa Justyna  Eckersdorf-Mastalerz Anna  Kaluzewski Bogdan  Helszer Zofia  Trzeciak Wieslaw H
Affiliation:

aDepartment of Biochemistry and Molecular Biology, University of Medical Sciences, Poznan, Poland

bDepartment of Medical Genetics, University of Medical Sciences, Lodz, Poland

Abstract:
Keywords:CAIS   AR gene   c.C2812T   P817L   dimerization
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