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�...

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Detaylı Bibliyografya
Yayımlandı:Ann Clin Transl Neurol
Asıl Yazarlar: Verdura, Edgard, Schlüter, Agatha, Fernández‐Eulate, Gorka, Ramos‐Martín, Raquel, Zulaica, Miren, Planas‐Serra, Laura, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, López de Munain, Adolfo, Pujol, Aurora
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2019
Konular:
Research Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6952318/
https://ncbi.nlm.nih.gov/pubmed/31854126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50967
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