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A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation
by
Hornig, Nadine C
,
de Beaufort, Carine
,
Denzer, Friederike
,
Cools, Martine
,
Wabitsch, Martin
,
Ukat, Martin
,
Kulle, Alexandra E
,
Schweikert, Hans-Udo
,
Werner, Ralf
,
Hiort, Olaf
,
Audi, Laura
,
Siebert, Reiner
,
Ammerpohl, Ole
,
Holterhus, Paul-Martin
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PloS one
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Plos One
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5' Untranslated Regions
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Aberration
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Androgen Receptors
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Androgen-Insensitivity Syndrome - Genetics
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Androgen-Insensitivity Syndrome - Metabolism
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Androgen-Insensitivity Syndrome - Pathology
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Androgens
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Base Sequence
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Biology And Life Sciences
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Diabetes
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Disorders
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Endocrinology
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Fibroblasts
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Fibroblasts - Metabolism
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Fibroblasts - Pathology
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Frameshift Mutation
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Gene Expression
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Gene Expression Regulation
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Gene Mutation
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