Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

Mental retardation is a frequent condition that is clinically and genetically highly heterogeneous. One of the strategies used to identify new causative genes is to take advantage of balanced chromosomal rearrangements in affected patients. We characterized a de novo t(10;13) balanced translocation...

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Main Authors: Cacciagli, Pierre, Haddad, Marie-Reine, Mignon-Ravix, Cécile, El-Waly, Bilal, Moncla, Anne, Missirian, Chantal, Chabrol, Brigitte, Villard, Laurent
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3002864/
https://ncbi.nlm.nih.gov/pubmed/20683487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.126
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