Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterizati...
Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Bardet-Biedl syndrome (BBS) is a rare ciliopathy disorder that is clinically and genetically heterogeneous with 18 known genes. This study was performed to characterize responsible genes and mutation spectrum in a cohort of 14 Iranian families with BBS. Sanger sequencing of the most commonly mutated genes (BBS1, BBS2 and BBS10) accounting for ∼50%...
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Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes
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TN_cdi_proquest_miscellaneous_1566839909
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1566839909
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2014.28
