Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements

Mol Genet Genomic Med. 2021 Dec;9(12):e1830. doi: 10.1002/mgg3.1830. Epub 2021 Oct 1.

Authors

Filip Majer¹, Jakub Sikora^{1

2}

Affiliations

¹ Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital, Praha 2, Czech Republic.
² Institute of Pathology, First Faculty of Medicine, Charles University, General University Hospital, Praha 2, Czech Republic.

No abstract available

Publication types

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

MeSH terms

Alu Elements*
Chromosome Breakpoints*
DNA Mutational Analysis / methods
Gene Rearrangement*
Genomics* / methods
Humans
Polymerase Chain Reaction* / methods
Sequence Deletion