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Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome
Andrologia
◽
10.1111/and.14292
◽
2021
◽
Author(s):
Guangjie Chen
◽
Dongyan Zhao
◽
Linfeng Zhu
◽
Yijun Zhao
◽
Jiahua Zhang
◽
...
Keyword(s):
Androgen Receptor
◽
Frameshift Mutation
◽
Receptor Gene
◽
Androgen Receptor Gene
◽
Androgen Insensitivity Syndrome
◽
Gene Variant
◽
Complete Androgen Insensitivity Syndrome
◽
Androgen Insensitivity
Download Full-text
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A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome
Gene
◽
10.1016/j.gene.2012.02.028
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2012
◽
Vol 500
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pp. 220-223
◽
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Androgen Insensitivity Syndrome
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Complete Androgen Insensitivity Syndrome
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Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations
Fertility and Sterility
◽
10.1016/j.fertnstert.2009.03.057
◽
2010
◽
Vol 94
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pp. 472-476
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Androgen Receptor
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Receptor Gene
◽
Androgen Receptor Gene
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Androgen Insensitivity Syndrome
◽
Complete Androgen Insensitivity Syndrome
◽
Androgen Insensitivity
◽
Stop Codons
◽
Exon 1
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International Collaborative
◽
New Mutations
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A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome
Asian Journal of Andrology
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10.4103/aja.aja_32_17
◽
2018
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Vol 20
(3)
◽
pp. 308
◽
Cited By ~ 2
Author(s):
Yue-Qiu Tan
◽
Shi-Min Yuan
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Huan Huang
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...
Keyword(s):
Androgen Receptor
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Receptor Gene
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Androgen Receptor Gene
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Androgen Insensitivity Syndrome
◽
Polypyrimidine Tract
◽
Complete Androgen Insensitivity Syndrome
◽
Androgen Insensitivity
Download Full-text
Complete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene
Steroids
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10.1016/j.steroids.2018.05.012
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2018
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Vol 137
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pp. 64-69
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Keyword(s):
Androgen Receptor
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Receptor Gene
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Androgen Receptor Gene
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Androgen Insensitivity Syndrome
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Splice Acceptor Site
◽
Acceptor Site
◽
Splice Acceptor
◽
Complete Androgen Insensitivity Syndrome
◽
Androgen Insensitivity
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A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome
Journal of Obstetrics and Gynaecology
◽
10.3109/01443615.2012.698335
◽
2012
◽
Vol 32
(7)
◽
pp. 707-708
Author(s):
Z. Cai
◽
Z. S. Li
◽
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Keyword(s):
Androgen Receptor
◽
Nonsense Mutation
◽
Receptor Gene
◽
Androgen Receptor Gene
◽
Androgen Insensitivity Syndrome
◽
Complete Androgen Insensitivity Syndrome
◽
Androgen Insensitivity
◽
Terminal Domain
Download Full-text
An uncommon large deletion in the androgen-receptor gene in a XY female with complete androgen insensitivity syndrome
Journal of Endocrinological Investigation
◽
10.1007/bf03344130
◽
2006
◽
Vol 29
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◽
pp. 457-461
Author(s):
C. Moretti
◽
T. Odorisio
◽
R. Geremia
◽
P. Grimaldi
Keyword(s):
Androgen Receptor
◽
Receptor Gene
◽
Large Deletion
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Androgen Receptor Gene
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Androgen Insensitivity Syndrome
◽
Complete Androgen Insensitivity Syndrome
◽
Androgen Insensitivity
◽
Xy Female
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Novel Androgen Receptor Gene Mutation in Patient With Complete Androgen Insensitivity Syndrome
Urology
◽
10.1016/j.urology.2012.03.028
◽
2012
◽
Vol 80
(1)
◽
pp. 216-218
◽
Cited By ~ 2
Author(s):
Ye Ning
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Androgen Receptor
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Gene Mutation
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Receptor Gene
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Androgen Insensitivity Syndrome
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Complete Androgen Insensitivity Syndrome
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A Novel Mutation of the Androgen Receptor Gene Ligand-Binding Domain (V734P) Associated with the Complete Androgen Insensitivity Syndrome
Clinical Pediatric Endocrinology
◽
10.1297/cpe.4.149
◽
1995
◽
Vol 4
(2)
◽
pp. 149-154
Author(s):
Ryo Ogawa
◽
Hideki Yagi
◽
Tomohisa Nagashima
◽
Kazumichi Onigata
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Keyword(s):
Androgen Receptor
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Ligand Binding
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Novel Mutation
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Receptor Gene
◽
Androgen Receptor Gene
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Androgen Insensitivity Syndrome
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Binding Domain
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Ligand Binding Domain
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Complete Androgen Insensitivity Syndrome
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Androgen Insensitivity
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Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report
World Journal of Clinical Cases
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10.12998/wjcc.v9.i35.11036
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2021
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Vol 9
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pp. 11036-11042
Author(s):
Ka-Na Wang
◽
Qing-Qing Chen
◽
Yi-Lin Zhu
◽
Chun-Lin Wang
Keyword(s):
Case Report
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Androgen Receptor
◽
Receptor Gene
◽
Androgen Receptor Gene
◽
Androgen Insensitivity Syndrome
◽
Complete Androgen Insensitivity Syndrome
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Androgen Insensitivity
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Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism
Frontiers in Endocrinology
◽
10.3389/fendo.2018.00795
◽
2019
◽
Vol 9
◽
Author(s):
Ilze Konrade
◽
Julija Zavorikina
◽
Aija Fridvalde
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Dmitrijs Rots
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Ieva Kalere
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...
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Androgen Receptor
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Receptor Gene
◽
Androgen Receptor Gene
◽
Androgen Insensitivity Syndrome
◽
Complete Androgen Insensitivity Syndrome
◽
Androgen Insensitivity
◽
Novel Variant
Download Full-text
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