The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy

Author:

Nanda Anika,McClements Michelle E.,Clouston Penny,Shanks Morag E.,MacLaren Robert E.

Publisher

Elsevier BV

Subject

Ophthalmology

Reference22 articles.

1. RP1 in Chinese: eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa;Baum;Hum Mutat,2001

2. Retinitis pigmentosa: genes and disease mechanisms;Ferrari;Curr Genomics,2011

3. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors;Liu;Invest Ophthalmol Vis Sci,2002

4. RP1 is required for the correct stacking of outer segment discs;Liu;Invest Ophthalmol Vis Sci,2003

5. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1);Berson;Invest Ophthalmol Vis Sci,2001

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