Allelic dropout in the endoglin (ENG) gene caused by common duplication beyond the primer binding site
Allelic dropout (ADO) is a common limitation of all PCR-based molecular diagnostic methods, leading to false-negative or false-positive results, depending on the allele that was dropped. We report a case of multiple locus-specific allele dropouts mediated by a common duplication beyond the primer-bi...
Saved in:
| Main Authors: | Anna G. Shestak, Victoria A. Rumyantseva, Elena V. Zaklyazminskaya |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-06-01
|
| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1571437/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Prospective pilot study of Floseal® for the treatment of anterior epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT)
by: John M. Lee, et al.
Published: (2019-10-01) -
Coexistence of Hereditary Hemorrhagic Telangiectasia and Moyamoya Disease: A Case Report Highlighting a Potential Genetic Synergy
by: Liu S, et al.
Published: (2025-07-01) -
Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele
by: Akash Mathavan, et al.
Published: (2025-03-01) -
Influence of hybridization probe capture and amplicon library construction methods on HLA genotyping resolution level
by: YUAN Xiaoni, et al.
Published: (2025-03-01) -
Determination of high-confidence germline genetic variants in next-generation sequencing through machine learning models: an approach to reduce the burden of orthogonal confirmation
by: Muqing Yan, et al.
Published: (2025-08-01)