Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.

Hellen HoulleberghsMarleen DekkerJarnick LusseveldWietske PietersThomas van RavesteynSenno VerhoefRobert M W HofstraHein Te Riele

Published in: Journal of medical genetics (2019)

ODMS is a reliable tool to identify pathogenic MLH1 variants. Implementation in clinical diagnostics will improve clinical care of patients with suspected LS and their relatives.

Keyphrases

healthcare
copy number
quality improvement
primary care
palliative care
high throughput
genome wide
case report
dna methylation