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A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Nonsyndromic mental retardation is one of the most important unresolved problems in genetic health care. Autosomal forms are far more common than X-linked forms, but, in contrast to the latter, they are still largely unexplored. Here, we report a complex mutation in the ionotropic glutamate receptor...

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Detalhes bibliográficos
Main Authors: Motazacker, Mohammad Mahdi , Rost, Benjamin Rainer , Hucho, Tim , Garshasbi, Masoud , Kahrizi, Kimia , Ullmann, Reinhard , Abedini, Seyedeh Sedigheh , Nieh, Sahar Esmaeeli , Amini, Saeid Hosseini , Goswami, Chandan , Tzschach, Andreas , Jensen, Lars Riff , Schmitz, Dietmar , Ropers, Hans Hilger , Najmabadi, Hossein , Kuss, Andreas Walter 
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2007
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2227928/
https://ncbi.nlm.nih.gov/pubmed/17847003
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