Llwytho...

Rare Intranuclear Inclusions in the Brains of 3 Older Adult Males with Fragile X Syndrome: Implications for the Spectrum of Fragile X-Associated Disorders

The FMR1 gene is polymorphic for the length of CGG trinucleotide repeat expansions in the 5′ untranslated region. Premutation (55–200 CGG repeats) and full mutation (>200 CGG repeats) alleles give rise to their respective disorders by different pathogenic mechanisms: RNA gain of function toxicity...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Hunsaker, Michael R., Greco, Claudia M., Tassone, Flora, Berman, Robert F., Willemsen, Rob, Hagerman, Randi J., Hagerman, Paul J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2011
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3109086/
https://ncbi.nlm.nih.gov/pubmed/21572337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0b013e31821d3194
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!