Browsing by Author "Toppari Jorma"
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Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene
Känsäkoski Johanna; Jääskeläinen Jarmo; Jääskeläinen Tiina; Tommiska Johanna; Saarinen Lilli; Lehtonen Rainer; Hautaniemi Sampsa; Frilander Mikko J; Palvimo Jorma J; Toppari Jorma; Raivio Taneli (Nature Publishing Group, 2016)Mutations in the X-linked androgen receptor (AR) gene underlie complete androgen insensitivity syndrome (CAIS), the most common cause of 46,XY sex reversal. Molecular genetic diagnosis of CAIS, however, remains uncertain ...info:eu-repo/semantics/article