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Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
OBJECTIVE: To determine a molecular diagnosis for a large multigenerational family of South Asian ancestry with seizures, hyperactivity, and episodes of tongue biting. METHODS: Two affected individuals from the family were analyzed by whole-genome sequencing on the Illumina HiSeq X platform, and rar...
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| Vydáno v: | Neurol Genet |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wolters Kluwer
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5961193/ https://ncbi.nlm.nih.gov/pubmed/29845114 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000242 |
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