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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
OBJECTIVE: To identify causative mutations in a patient affected by ataxia and spastic paraplegia. METHODS: Whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) were performed using patient's DNA sample. RT‐PCR and cDNA Sanger sequencing were performed on RNA extracted from patient�...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6952318/ https://www.ncbi.nlm.nih.gov/pubmed/31854126 http://dx.doi.org/10.1002/acn3.50967 |