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.
Turek-Plewa, Justyna
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. [electronic resource] - Fertility and sterility Jun 2006 - 1822.e1-4 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1556-5653
10.1016/j.fertnstert.2005.11.063 doi
Adult
Amino Acid Substitution
Androgen-Insensitivity Syndrome--genetics
Dimerization
Female
Genetic Predisposition to Disease--genetics
Gonadal Dysgenesis, 46,XY--genetics
Heterozygote
Humans
Male
Mothers
Pedigree
Receptors, Androgen--chemistry
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. [electronic resource] - Fertility and sterility Jun 2006 - 1822.e1-4 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1556-5653
10.1016/j.fertnstert.2005.11.063 doi
Adult
Amino Acid Substitution
Androgen-Insensitivity Syndrome--genetics
Dimerization
Female
Genetic Predisposition to Disease--genetics
Gonadal Dysgenesis, 46,XY--genetics
Heterozygote
Humans
Male
Mothers
Pedigree
Receptors, Androgen--chemistry