Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

Keyphrases

• Large Deletion 100%
• Europe 100%
• North America 100%
• Ocular Albinism 100%
• Intragenic Deletion 18%
• Point mutation 9%
• Molecular Diagnostics 9%
• Structural Features 9%
• Missense mutation 9%
• Splicing mutation 9%
• Frameshift mutation 9%
• Nonsense mutation 9%
• Retina 9%
• Functional Traits 9%
• Moderate to Severe 9%
• G Protein-coupled Receptor 9%
• Geographical Origin 9%
• Visual Acuity 9%
• Mutation Detection 9%
• Mutation Analysis 9%
• Protein Drug 9%
• Pathogenic mutations 9%
• Membrane Glycoproteins 9%
• Macromelanosomes 9%
• Hypopigmentation 9%
• X-linked Disorder 9%
• Mutation Distribution 9%
• Congenital Nystagmus 9%
• Detection Program 9%

Biochemistry, Genetics and Molecular Biology

• Albinism 100%
• Prevalence 100%
• Frameshift Mutation 9%
• Splice Site Mutation 9%
• Point Mutation 9%
• Visual Acuity 9%
• Missense Mutation 9%
• Nonsense Mutation 9%
• Membrane Protein 9%
• G Protein Coupled Receptor 9%