Cargando…
A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family
PURPOSE: Peters anomaly (PA) is a heterogeneous developmental disorder characterized by central corneal opacity and iridocorneal or corneolenticular adhesions. Although many causative genes have been identified, most screened patients do not have mutations in the known genes. We aimed to identify th...
Autores principales: | Darbari, Ensieh, Zare-Abdollahi, Davood, Alavi, Afagh, Rezaei Kanavi, Mozhgan, Feizi, Sepehr, Hosseini, Seyed Bagher, Baradaran-Rafii, Alireza, Ahmadieh, Hamid, Issazadeh-Navikas, Shohreh, Elahi, Elahe |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7700884/ https://www.ncbi.nlm.nih.gov/pubmed/33273802 |
Ejemplares similares
-
Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients
por: Darbari, Ensieh, et al.
Publicado: (2022) -
Alerting the immune system via stromal cells is central to the prevention of tumor growth
por: Issazadeh-Navikas, Shohreh
Publicado: (2013) -
Recurrent Keratoconus in a Corneal Graft after Deep Anterior Lamellar Keratoplasty
por: Feizi, Sepehr, et al.
Publicado: (2012) -
Local therapy with CpG motifs in a murine model of allergic airway inflammation in IFN-β knock-out mice
por: Matheu, Victor, et al.
Publicado: (2005) -
Observation of c.260A > G mutation in superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation
por: Khani, Marzieh, et al.
Publicado: (2015)