A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants

PURPOSE: DNA sequencing technology has unmasked a vast number of uncharacterized single nucleotide variants in disease-associated genes, and efficient methods are needed to determine pathogenicity and enable clinical care. METHODS: We report herein an E.coli-based solubility assay for assessing the...

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Detalles Bibliográficos
Autores principales: Anderson, Corey L., Routes, Tim C., Eckhardt, Lee L., Delisle, Brian P., January, Craig T., Kamp, Timothy J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7529867/
https://www.ncbi.nlm.nih.gov/pubmed/32475984
http://dx.doi.org/10.1038/s41436-020-0842-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7529867/
https://www.ncbi.nlm.nih.gov/pubmed/32475984
http://dx.doi.org/10.1038/s41436-020-0842-1

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