hrp0082fc6.2 | Gonads & DSD | ESPE2014
Hornig Nadine
, Schweikert Hans-Udo
, Ukat Martin
, Kulle Alexandra
, Welzel Maik
, Wehner Gaby
, Werner Ralf
, Hiort Olaf
, Drop Stenvert
, Cools Martine
, de Beaufort Carine
, Siebert Reiner
, Ammerpohl Ole
, Holterhus Paul-Martin
Background: In a large fraction of patients with clinically presumed Androgen Insensitivity Syndrome, no mutation of the Androgen Receptor gene can be detected. However, established Sanger sequencing techniques of the AR gene are often limited to the coding region.Objective and Hypotheses: To set up a next generation sequencing (NGS) approach of the entire AR locus (including UTRs, exons, introns, up- and downstream regions) for a comprehensive ...