Cargando…
The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East
PURPOSE: To search for the genetic cause of juvenile open-angle glaucoma (JOAG) in a Caucasian family and to perform genotype/phenotype correlation studies in the kindred. METHODS: Six members of a three-generation family originating from Uzbekistan and now living in the Middle East were recruited f...
Autores principales: | Avisar, Inbal, Lusky, Moshe, Robinson, Anat, Shohat, Mordechai, Dubois, Stéphane, Raymond, Vincent, Gaton, Dan D. |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2009
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751802/ https://www.ncbi.nlm.nih.gov/pubmed/19784393 |
Ejemplares similares
-
Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma
por: Wei, Yan-Tao, et al.
Publicado: (2011) -
A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma
por: Souzeau, Emmanuelle, et al.
Publicado: (2016) -
Association of the Myocilin Gene Polymorphism With Primary Open Angle Glaucoma
por: DERAKHSHAN, Akbar, et al.
Publicado: (2019) -
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma
por: Mengkegale, MingGe, et al.
Publicado: (2008) -
Unaltered myocilin expression in the blood of primary open angle glaucoma patients
por: Abu-Amero, Khaled K., et al.
Publicado: (2012)