Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

More than 900 variants have been described in the GLA gene. Some intronic variants and copy number variants in GLA can cause Fabry disease but will not be detected by classical Sanger sequence. We aimed to design and validate a method for sequencing the GLA gene using long-read Oxford Nanopore seque...

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Detalles Bibliográficos
Autores principales: Nowak, Albina, Murik, Omer, Mann, Tzvia, Zeevi, David A., Altarescu, Gheona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595663/
https://www.ncbi.nlm.nih.gov/pubmed/34785703
http://dx.doi.org/10.1038/s41598-021-01749-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595663/
https://www.ncbi.nlm.nih.gov/pubmed/34785703
http://dx.doi.org/10.1038/s41598-021-01749-7

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