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Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
OBJECTIVE: To describe clinical, biochemical, and molecular genetic findings in a large inbred family in which 4 children with a severe early-onset epileptic-dyskinetic encephalopathy, with suppression burst EEG, harbored homozygous mutations of phosphatidylinositol glycan anchor biosynthesis, class...
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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6984131/ https://ncbi.nlm.nih.gov/pubmed/32042915 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000387 |
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