A Comprehensive Assay for Resolving Repeat Expansions to the Base Pair

Clin Chem. 2023 Mar 1;69(3):213-215. doi: 10.1093/clinchem/hvac141.

Authors

Erik-Jan Kamsteeg¹, Christian Gilissen²

Affiliations

¹ Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.
² Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.

PMID: 36373180
DOI: 10.1093/clinchem/hvac141

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Pairing
DNA Repeat Expansion*
Humans
Trinucleotide Repeat Expansion*