Publication
Unraveling the pathogenesis of
ARX
polyalanine tract variants using a clinical and molecular interfacing approach
Isabel Marques, Maria João Sá, Gabriela Soares, Maria do Céu Mota, Carla Pinheiro, Lisa Aguiar, Marta Amado, Christina Soares, Angelina Calado, Patrícia Dias, Ana Berta Sousa, Ana Maria Fortuna, Rosário Santos, Katherine B. Howell, Monique M. Ryan, Richard J Leventer, Rani Sachdev, Rachael Catford, Kathryn Friend, Tessa R. Mattiske, Cheryl Shoubridge, Paula Jorge
Molecular Genetics & Genomic Medicine, February 2015, Wiley
DOI: 10.1002/mgg3.133