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Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140
Series of patients with nonsyndromic retinitis pigmentosa (RP) due to IFT140 was investigated in this study.
Mar 1, 2016
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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