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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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Bibliografische gegevens
Hoofdauteurs: Cacciagli, Pierre, Haddad, Marie-Reine, Mignon-Ravix, Cécile, El-Waly, Bilal, Moncla, Anne, Missirian, Chantal, Chabrol, Brigitte, Villard, Laurent
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2010
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Online toegang: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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