Gene: [0Yp113/SRY] sex determining region Y; gonadal dysgenesis, XY female type; sex reversal with partial ovarian function;

REF

MUT "Affara NA &: Hum Mol Genet, 2, N6, 785-789, 1993
CLO,SEQ,STR "Behlke MA &: Genomics, 17, N3, 736-739, 1993
FOG "Berta P &: Nature, 348, N6300, 448-450, 1990
MUT "Braun A &: AJHG, 52, N3, 578-585, 1993
MUT "Brown S &: AJHG, 62, N1, 189-192, 1998
MUT "Cameron FJ, Sinclair AH: Hum Mut, 9, N5, 388-395, 1997
CLO,SEQ "Clepet C &: Hum Mol Genet, 2, N12, 2007-2012, 1993
MUT "Domenice S &: Hum Genet, 102, N2, 213-215, 1998
MUT "Dork T &: Hum Mut, 11, N1, 90-91, 1998
EXP "Fiddler M &: Am J Med Genet, 55, N1, 80-84, 1995
MAP "Foote S &: Science, 258, N5076, 60-66, 1992
MUT "Hawkins JR: Hum Mut, 2, N5, 347-350, 1993
MUT "Iida T &: Hum Mol Genet, 3, N8, 1437-1438, 1994
MUT "Jager RJ &: Nature, 348, 452-454, 1990
MUT "Peters R &: Biochemistry, 34, N14, 4569-4576, 1995
MUT "Pontiggia A &: EMBO J, 13, N24, 6115-6124, 1994
MUT "Schmitt-Ney M &: AJHG, 56, N4, 862-869, 1995
LOC "Sinclair AH &: Nature, 346, N6281, 240-244, 1990
MUT "Veitia R &: Hum Genet, 99, N5, 648-652, 1997
MUT "Zeng YT &: J Med Genet, 30, N8, 655-657, 1993

SWI

SWISSPROT: Q05066

KEY

sex

CLA

coding, basic

LOC

0Y p11.3

MIM

MIM: 480000

Ссылки: