Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene (original ) (raw )Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome
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Journal of Human Genetics, 2001
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Journal of Genetics, 2016
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Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations
Charles Sultan
Molecular and Cellular Endocrinology, 1996
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Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)
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The Journal of Clinical Endocrinology & Metabolism, 2018
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Hughes Ia , Bronwen Evans
Human Molecular Genetics, 1996
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The Journal of Steroid Biochemistry and Molecular Biology, 1993
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The Journal of Steroid Biochemistry and Molecular Biology, 2017
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Novel mutation in the ligand-binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome
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Asian Journal of Andrology, 2008
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Mir Omrani
2006
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Complete Androgen Insensitivity Syndrome Caused by a Novel Mutation in the Ligand-Binding Domain of the Androgen Receptor: Functional Characterization
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The Journal of Clinical Endocrinology & Metabolism, 2002
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The Journal of Steroid Biochemistry and Molecular Biology, 1995
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Pharmacogenetics of human androgens and prostatic diseases
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Pharmacogenomics, 2001
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Mutation analysis of androgen receptor gene: Multiple uses for a single test
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Gene, 2014
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The androgen receptor gene mutations database (ARDB): 2004 update
Bruce Gottlieb
Human Mutation, 2004
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A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family
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Fertility and Sterility, 2008
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M. Trifiro
The Journal of Steroid Biochemistry and Molecular Biology, 1991
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Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene
farida mebarki
The Journal of Clinical Endocrinology & Metabolism, 1996
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Identification of a Critical Novel Mutation in the Exon 1 of Androgen Receptor Gene in 2 Brothers With Complete Androgen Insensitivity Syndrome
Ramin Radpour
Journal of Andrology, 2009
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Estrogen Receptor{alpha} Gene Deficiency Enhances Androgen Biosynthesis in the
Kenneth Korach
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Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: functional analysis of the mutant receptor
poujol nicolas
Molecular and Cellular Endocrinology, 1995
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Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics
Maciej Kurpisz
International Journal of Molecular Sciences, 2019
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Androgen resistance caused by mutations in the androgen receptor gene
Marco Marcelli
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 1991
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Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism
S. Lumbroso
The Journal of Steroid Biochemistry and Molecular Biology, 1993
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Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
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Endocrine Journal, 2008
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Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome
Helen Maclean
Human Mutation, 2004
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Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome1
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The Journal of Clinical Endocrinology & Metabolism, 1997
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G708E Mutation In the Androgen Receptor Results In Complete Loss of Androgen Function
pooja singh
Journal of …, 2010
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Novel Androgen Receptor gene variant containing a premature termination codon in a patient with androgen insensitivity syndrome
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