Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches in the Australian and Portuguese setting, usi...

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Detalles Bibliográficos
Autores principales: Marques, Isabel, Sá, Maria João, Soares, Gabriela, Mota, Maria do Céu, Pinheiro, Carla, Aguiar, Lisa, Amado, Marta, Soares, Christina, Calado, Angelina, Dias, Patrícia, Sousa, Ana Berta, Fortuna, Ana Maria, Santos, Rosário, Howell, Katherine B, Ryan, Monique M, Leventer, Richard J, Sachdev, Rani, Catford, Rachael, Friend, Kathryn, Mattiske, Tessa R, Shoubridge, Cheryl, Jorge, Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444162/
https://www.ncbi.nlm.nih.gov/pubmed/26029707
http://dx.doi.org/10.1002/mgg3.133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444162/
https://www.ncbi.nlm.nih.gov/pubmed/26029707
http://dx.doi.org/10.1002/mgg3.133

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