Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

Bardet-Biedl Syndrome (BBS) is a heterogeneous syndromic form of retinal degeneration. We have identified a novel transcript of a known BBS gene, BBS3 (ARL6), which includes an additional exon. This transcript, BBS3L, is evolutionally conserved and is expressed predominantly in the eye, suggesting a...

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Main Authors: Pretorius, Pamela R., Baye, Lisa M., Nishimura, Darryl Y., Searby, Charles C., Bugge, Kevin, Yang, Baoli, Mullins, Robert F., Stone, Edwin M., Sheffield, Val C., Slusarski, Diane C.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2010
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2841623/
https://ncbi.nlm.nih.gov/pubmed/20333246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1000884
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