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Keywords: Targeted exome sequencing
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Articles

Retraction: Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing

Journal: Bioscience Reports
Biosci Rep (2024) 44 (10): BSR-2018-1544_RET.
https://doi.org/10.1042/BSR-2018-1544_RET
Published: 07 October 2024
... © 2024 The Author(s). 2024 This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY) . Bardet-Biedl syndrome BBS5 gene Splicing variant Targeted exome sequencing...
View article titled, Retraction: Novel splicing variant c. 208+2T&amp;gt;C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by <span class="search-highlight">targeted</span> <span class="search-highlight">exome</span> <span class="search-highlight">sequencing</span>
Open the PDF for Retraction: Novel splicing variant c. 208+2T&gt;C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by <span class="search-highlight">targeted</span> <span class="search-highlight">exome</span> <span class="search-highlight">sequencing</span> in another window
Articles

Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing

Saber Imani, Jingliang Cheng, Jiewen Fu, Abdolkarim Mobasher-Jannat, Chunli Wei, Saman Mohazzab-Torabi, Khosrow Jadidi, Mohammad Hossein Khosravi, Marzieh Dehghan Shasaltaneh, Lisha Yang, Md. Asaduzzaman Khan, Junjiang Fu
Journal: Bioscience Reports
Biosci Rep (2019) 39 (3): BSR20181544.
https://doi.org/10.1042/BSR20181544
Published: 29 March 2019
... which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited...
View article titled, Novel splicing variant c. 208+2T&amp;gt;C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by <span class="search-highlight">targeted</span> <span class="search-highlight">exome</span> <span class="search-highlight">sequencing</span>
Open the PDF for Novel splicing variant c. 208+2T&gt;C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by <span class="search-highlight">targeted</span> <span class="search-highlight">exome</span> <span class="search-highlight">sequencing</span> in another window
Includes: Supplementary data