The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson’s disease variants
Introduction: Recombinant alleles are responsible for a large part of Gaucher disease (GD) causing alterations. This is because GBA1, the gene involved in GD, has a 96 % homologous pseudogene, GBAP1, at a 1.6kb distance. GBA1 gene variants are also the most common molecular alteration among Parkinso...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
|
| Series: | Clinical Parkinsonism & Related Disorders |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2590112525000428 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|