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Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit
Intellectual disability (ID) is a common neurodevelopmental disorder that can arise from genetic mutations ranging from trisomy to single nucleotide polymorphism. Mutations in a growing number of single genes have been identified as causative in ID, including ARHGEF9. Evaluation of 41 ARHGEF9 patien...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9095487/ https://www.ncbi.nlm.nih.gov/pubmed/35169261 http://dx.doi.org/10.1038/s41380-022-01468-z |
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por Hines, Dustin J., Contreras, April, Garcia, Betsua, Barker, Jeffrey S., Boren, Austin J., Moufawad El Achkar, Christelle, Moss, Stephen J., Hines, Rochelle M.
Publicado 2022
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Publicado 2022
Enlace del recurso
Online
Artículo
Texto