rss
Br J Ophthalmol 85:1046-1048 doi:10.1136/bjo.85.9.1046
  • Scientific correspondence

Rhodopsin mutations in Chinese patients with retinitis pigmentosa

Table 1

Sequence alterations identified in RHO in our study

Codon change Nucleotide change Exon Frequency in patients Frequency in controls References
5′ UTR A269G 1 1/101 1/190 27, 30
Thr62Thr ACC480ACT 1 1/101 0/190 Novel
Leu259Leu ATC4175ATT 4 1/101 0/190 Novel
Ala299Ser GCC4293TCC 4 1/101 2/190 Novel
Intron 4 G5145A Intron 4 35/101 58/190 27, 31
From 327 5211delC 5 1/101 0/190 Novel
Thr340Thr ACG5251ACA 5 1/101 0/190 Novel
Pro347Leu CCG5271CTG 5 1/101 0/190 32
3′ UTR C5321A 5 11/101 20/190 27, 31

This Article

  1. Abstract
  2. Full text
  3. PDF

Register for free content


Free sample
This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of BJO.
View free sample issue >>

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.