A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica

Intellectual disability is a highly heterogeneous disease that affects the central nervous system and impairs patients’ ability to function independently. Despite multiples genes involved in the etiology of disease, most of the genetic background is yet to be discovered. We used runs of homozygosity...

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Publicado en:JIMD Rep
Autores principales: Lobo-Prada, Tanya, Sticht, Heinrich, Bogantes-Ledezma, Sixto, Ekici, Arif, Uebe, Steffen, Reis, André, Leal, Alejandro
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Berlin Heidelberg 2017
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5680285/
https://ncbi.nlm.nih.gov/pubmed/28130718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_40
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