Expanded Clinical Phenotype of Women With the FMR1 Premutation

Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well char...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Coffey, Sarah M., Cook, Kylee, Tartaglia, Nicole, Tassone, Flora, Nguyen, Danh V., Pan, Ruiqin, Bronsky, Hannah E., Yuhas, Jennifer, Borodyanskaya, Mariya, Grigsby, Jim, Doerflinger, Melanie, Hagerman, Paul J., Hagerman, Randi J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2008
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2888464/
https://ncbi.nlm.nih.gov/pubmed/18348275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32060
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge