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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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| Publicat a: | Neurol Genet |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wolters Kluwer
2016
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| Matèries: | |
| Accés en línia: | 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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