Article
<strong>Novel</strong> <strong>Missense</strong><strong> Mutation</strong> <strong>in Ligand-Binding Domain of AR Gene Identified in Patient with Androgen Insensitivity Syndrome</strong> <strong>from Ukraine</strong>
2020-04-27
Abstract excerpt
Androgen insensitivity syndrome (AIS) is the most common disorder of sex development in people with karyotype 46,XY. Mutations in AR (androgen receptor) gene are found in most individuals with AIS. Exons 4-8, which encode LBD, were shown to be a mutation hotspot. The aim of this study was the search of mutations in the sequence of exons 6-8 which encode LBD of AR gene in patients with different clinical AIS phenot...
Topics
Open a Topic to create a Post that cites this publication.
Identifiers and source
- Literature Corpus work
- cac86b95-bb04-564c-a4c0-7c0a3a91ad21
- DOI
- 10.20944/preprints202004.0476.v1
