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Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
Hum Mol Genet. 2011 Apr 15;20(8):1625-32. doi: 10.1093/hmg/ddr039. Epub 2011 Jan 31.
Hum Mol Genet. 2011.
PMID: 21282186
Free PMC article.
Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.
Pretorius PR, Baye LM, Nishimura DY, Searby CC, Bugge K, Yang B, Mullins RF, Stone EM, Sheffield VC, Slusarski DC.
Pretorius PR, et al.
PLoS Genet. 2010 Mar 19;6(3):e1000884. doi: 10.1371/journal.pgen.1000884.
PLoS Genet. 2010.
PMID: 20333246
Free PMC article.
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