Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy
Author:
Funder
National Institute for Health and Care Research
NIHR Oxford Biomedical Research Centre
Publisher
Elsevier BV
Subject
Ophthalmology
Reference28 articles.
1. Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa;Sullivan;Invest Ophthalmol Vis Sci,2013
2. The location of exon 4 mutations in RP1 raises challenges for genetic counseling and gene therapy;Nanda;Am J Ophthalmol,2019
3. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1);Berson;Invest Ophthalmol Vis Sci,2001
4. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families;Riazuddin;Invest Ophthalmol Vis Sci,2005
5. RP1 is required for the correct stacking of outer segment discs;Liu;Invest. Ophthalmol. Visual Sci.,2003
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