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Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities

OBJECTIVE: To identify the underlying molecular basis of a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties in 4 sisters from a consanguineous family. METHODS: Whole-exome analysis of DNA of the 2 older patients followed by Sanger sequencing of...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Alkufri, Fadi, Shaag, Avraham, Abu-Libdeh, Bassam, Elpeleg, Orly
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4830197/
https://ncbi.nlm.nih.gov/pubmed/27123486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000064
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