Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethn...
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population
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London: BMJ Publishing Group Ltd
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English
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London: BMJ Publishing Group Ltd
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BackgroundBardet–Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8GTP to the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and BBS12, have been defined as a vert...
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Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population
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TN_cdi_proquest_miscellaneous_733568379
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_733568379
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg.2009.073205
