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A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.
Mol Cell Endocrinol. 1995 Apr 28;111(1):93-8. doi: 10.1016/0303-7207(95)03554-k.
Mol Cell Endocrinol. 1995.
PMID: 7649358
CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation.
Neuschmid-Kaspar F, Gast A, Peterziel H, Schneikert J, Muigg A, Ransmayr G, Klocker H, Bartsch G, Cato AC.
Neuschmid-Kaspar F, et al.
Mol Cell Endocrinol. 1996 Mar 25;117(2):149-56. doi: 10.1016/0303-7207(95)03741-1.
Mol Cell Endocrinol. 1996.
PMID: 8737374
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Androgen receptor alterations in patients with disturbances in male sexual development and in prostatic carcinoma.
Klocker H, Neuschmid-Kaspar F, Culig Z, Cato AC, Hobisch A, Eberle J, Cronauer MV, Hittmair A, Radmayr C, Uberreiter S, et al.
Klocker H, et al. Among authors: neuschmid kaspar f.
Urol Int. 1995;54(1):2-5. doi: 10.1159/000282684.
Urol Int. 1995.
PMID: 7770997
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Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.
Radmayr C, Culig Z, Glatzl J, Neuschmid-Kaspar F, Bartsch G, Klocker H.
Radmayr C, et al. Among authors: neuschmid kaspar f.
J Urol. 1997 Oct;158(4):1553-6.
J Urol. 1997.
PMID: 9302173
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Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.
Menardi C, Schneider R, Neuschmid-Kaspar F, Klocker H, Hirsch-Kauffmann M, Auer B, Schweiger M.
Menardi C, et al. Among authors: neuschmid kaspar f.
Hum Mutat. 1997;10(3):251-5. doi: 10.1002/(SICI)1098-1004(1997)10:3<251::AID-HUMU15>3.0.CO;2-Z.
Hum Mutat. 1997.
PMID: 9298830
No abstract available.
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