A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation
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 readin...
Main Authors: | , , , , , , , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
Public Library of Science
2016
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844194/ |