Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene

We evaluated the pathogenicity of the G1961E mutation in the ABCA4 gene, and present the range of retinal phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated phenotypes. Patients were enrolled from the ABCA4 disease database at Columbia University or by...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Investigative ophthalmology & visual science 2012-07, Vol.53 (8), p.4458-4467
Hauptverfasser:	Burke, Tomas R, Fishman, Gerald A, Zernant, Jana, Schubert, Carl, Tsang, Stephen H, Smith, R Theodore, Ayyagari, Radha, Koenekoop, Robert K, Umfress, Allison, Ciccarelli, Maria Laura, Baldi, Alfonso, Iannaccone, Alessandro, Cremers, Frans P M, Klaver, Caroline C W, Allikmets, Rando
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over ATP-Binding Cassette Transporters - genetics Child Electroretinography Exons - genetics Female Fluorescein Angiography Homozygote Humans Macular Degeneration - genetics Male Middle Aged Mutation, Missense Open Reading Frames Pedigree Phenotype Retina - physiopathology Retinal Diseases - diagnosis Retinal Diseases - genetics Retinal Diseases - physiopathology Retrospective Studies Tomography, Optical Coherence Visual Acuity - physiology Visual Field Tests Visual Fields - physiology Young Adult
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!