Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.

The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot analysis of HindIII digests. We show that, by using a different probe, the FRAXE mutation can be detected easily on the same EcoRI or EagI+EcoRI blots as are used for detection of FRAXA. Unexpectedly, w...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Biancalana, V., Taine, L., Bouix, J. C., Finck, S., Chauvin, A., De Verneuil, H., Knight, S. J., Stoll, C., Lacombe, D., Mandel, J. L.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1996
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914785/
https://ncbi.nlm.nih.gov/pubmed/8808600
Tagiau: Ychwanegu Tag
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