Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing

Background: Androgen insensitivity syndrome (AIS) is an X-linked recessive hereditary disease caused due to a reduced or absent function of the androgen receptor (AR) protein encoded by the AR gene (OMIM-Gene# 313,700). Genetic testing is important in the diagnosis, clinical management, and preventi...

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Detalles Bibliográficos
Autores principales: He, Xiaojing, Ma, Qingya, Zhang, Qiaoli, Hong, Xutao, Qi, Ming, Li, Yongkai, Li, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9732716/
https://www.ncbi.nlm.nih.gov/pubmed/36506311
http://dx.doi.org/10.3389/fgene.2022.1038997

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