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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Bibliografische gegevens
Hoofdauteurs: 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 
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society of Human Genetics 2007
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2227928/
https://ncbi.nlm.nih.gov/pubmed/17847003
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