Article
Rhodopsin mutations in Chinese patients with retinitis pigmentosa.
The British journal of ophthalmology - 1 Sept 2001
Chan W M, Yeung K Y, Pang C P, Baum L, Lau T C, Kwok A K, Lam D S
Abstract excerpt
AIM: To determine the pattern of rhodopsin mutations in Chinese retinitis pigmentosa (RP) patients. METHODS: The rhodopsin gene was examined in 101 RP patients and 190 controls from Hong Kong. RESULTS: Three coding changes were identified: Pro347Leu, Ala299Ser, and 5211delC. Each protein sequence alteration was found in one patient. Ala299Ser also existed in two controls. CONCLUSION: The C-terminal nonsense...
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