A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2019; you can also visit the original URL.
The file type is application/pdf
.
Compound Heterozygosity of Two Novel Truncation Mutations inRP1Causing Autosomal Recessive Retinitis Pigmentosa
2010
Investigative Ophthalmology and Visual Science
PURPOSE. To evaluate the phenotypic effects of two novel frameshift mutations in the RP1 gene in a Chinese pedigree of autosomal recessive retinitis pigmentosa (ARRP). METHODS. Family members of a proband with ARRP were screened for RP1, RHO, NR2E3, and NRL mutations by direct sequencing. Detected RP1 mutations were genotyped in 225 control subjects. Since one family member with the RP1 deletion mutation in exon 2 was found to have age-related macular degeneration (AMD) but not RP, exons 2 and
doi:10.1167/iovs.09-4437
pmid:19933189
fatcat:4p35avsc4ffo7i2fm3kq4n7jb4