A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensi...
A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Contents
A subset of patients with monogenic disorders lacks disease causing mutations in the protein coding region of the corresponding gene. Here we describe a recurrent germline mutation found in two unrelated patients with complete androgen insensitivity syndrome (CAIS) generating an upstream open reading frame (uORF) in the 5' untranslated region (5'-U...
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Full title
A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation
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TN_cdi_plos_journals_1784084146
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1784084146
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0154158
