Načítá se...

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

Fragile X syndrome, the leading heritable form of cognitive impairment, is caused by epigenetic silencing of the fragile X (FMR1) gene consequent to large expansions (>200 repeats) of a non-coding CGG-repeat element. Smaller, “premutation” expansions (55–200 repeats) can give rise to a family of...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Hagerman, Randi, Hagerman, Paul
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3922535/
https://ncbi.nlm.nih.gov/pubmed/23867198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S1474-4422(13)70125-X
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!