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May 15, 2017
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .
Jan 30, 2011
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration
Pamela R Pretorius , Mohammed A Aldahmesh , Fowzan S Alkuraya , Val C Sheffield , Diane C Slusarski | Human Molecular Genetics | 2011...
Mar 18, 2010
Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform
In this study we utilized two model systems, the zebrafish and mouse, to evaluate the function of a specific form of BBS (BBS3).
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