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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 . .
May 16, 2017
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...
Jan 30, 2011
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).
Mar 19, 2010
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