Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor.
Baldazzi
L
L
Clinica Pediatrica I, Ospedale S. Orsola, Bologna, Italy.
Baroncini
C
C
Pirazzoli
P
P
Balsamo
A
A
Capelli
M
M
Marchetti
G
G
Bernardi
F
F
Cacciari
E
E
D000595:Amino Acid Sequence; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004200:Diseases in Twins; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D011944:Receptors, Androgen / Q000737:chemistry / Q000235:genetics*; D017384:Sequence Deletion; D016335:Zinc Fingers / Q000235:genetics*
D011944:Receptors, Androgen