Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. We identified 23 different disease‐causing MECP2 mutations in 54 of 71 (76%) sporadic patients and in 2 of 7...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Annals of neurology 2000-05, Vol.47 (5), p.670-679
Hauptverfasser:	Amir, Ruthie E., Van Den Veyver, Ignatia B., Schultz, Rebecca, Malicki, Denise M., Tran, Charles Q., Dahle, E. J., Philippi, Anne, Timar, László, Percy, Alan K., Motil, Kathleen J., Lichtarge, Olivier, O'Brian Smith, E., Glaze, Daniel G., Zoghbi, Huda Y.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis DNA-Binding Proteins - genetics Dosage Compensation, Genetic Electrophysiology - methods Gene Expression - genetics Humans Infant Medical sciences Mutation, Missense - genetics Neurology Pedigree Phenotype Point Mutation - genetics Rett Syndrome - genetics Severity of Illness Index X Chromosome - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!