RDH12 retinopathy: novel mutations and phenotypic description

PURPOSE: To identify patients with autosomal recessive retinal dystrophy caused by mutations in the gene, retinal dehydrogenase 12 (RDH12), and to report the associated phenotype. METHODS: After giving informed consent, all patients underwent full clinical evaluation. Patients were selected for muta...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Mackay, Donna S., Dev Borman, Arundhati, Moradi, Phillip, Henderson, Robert H., Li, Zheng, Wright, Genevieve A., Waseem, Naushin, Gandra, Mamatha, Thompson, Dorothy A., Bhattacharya, Shomi S., Holder, Graham E., Webster, Andrew R., Moore, Anthony T.
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2011
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3209419/
https://ncbi.nlm.nih.gov/pubmed/22065924
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires