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...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	FRONTIERS IN GENETICS 2018-05, Vol.9 (MAY)
Hauptverfasser:	Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!