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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Detalles Bibliográficos
Autores principales: Walker, Susan, Dad, Rubina, Thiruvahindrapuram, Bhooma, Ullah, Muhammed Ikram, Ahmad, Arsalan, Hassan, Muhammad Jawad, Scherer, Stephen W., Minassian, Berge A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5961193/
https://www.ncbi.nlm.nih.gov/pubmed/29845114
http://dx.doi.org/10.1212/NXG.0000000000000242

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5961193/
https://www.ncbi.nlm.nih.gov/pubmed/29845114
http://dx.doi.org/10.1212/NXG.0000000000000242

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