Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

The fragile X syndrome arises from the FMR1 CGG expansion of a premutation (55–200 repeats) to a full mutation allele (>200 repeats) and is the most frequent cause of inherited X-linked intellectual disability. The risk for a premutation to expand to a full mutation allele depends on the repeat l...

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Vydáno v:Front Genet
Hlavní autoři: Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2018
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5964127/
https://ncbi.nlm.nih.gov/pubmed/29868108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00150
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