Molecular analysis of
Diagnosis
FMR1 gene
Fragile X syndrome
PCR
Journal
Practical laboratory medicine
ISSN: 2352-5517
Titre abrégé: Pract Lab Med
Pays: Netherlands
ID NLM: 101690848
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
23
08
2019
revised:
04
02
2020
accepted:
24
03
2020
entrez:
20
5
2020
pubmed:
20
5
2020
medline:
20
5
2020
Statut:
epublish
Résumé
Fragile X syndrome (FXS) is caused by expansion of the number of cytosine-guanine-guanine (CGG) repeats in the regulatory region of the gene and methods: This study had a retrospective design. We analyzed the performance of the FragilEase™ PCR kit using 90 DNA samples from patients with clinical suspicion of FXS or a family history of the syndrome using capillary electrophoresis and compared with the results obtained for the same samples using PCR, SB, and AmplideX FragilEase™ PCR kit displayed high concordance with the results obtained using PCR, SB, and AmplideX FragilEase™ PCR, as well as other commercially available kits, efficiently detect
Identifiants
pubmed: 32426440
doi: 10.1016/j.plabm.2020.e00162
pii: S2352-5517(19)30094-0
pii: e00162
pmc: PMC7225725
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e00162Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
None.
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