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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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| Główni autorzy: | , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Public Library of Science
2010
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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