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10.1155/2015/524754 http://scihub22266oqcxt.onion/10.1155/2015/524754 C4442282!4442282 !26078953     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26078953 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Biomed+Res+Int 2015 ; 2015 (ä): 524754 Nephropedia Template TP {{tp|p=26078953 |t=2015. Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome |pdf=|usr=}}{{26078953 }} gab.com Text Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome JO: Biomed Res Int http://www.kidney.de/pget.php?&tw=1&pmid=26078953 #FOAvip Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder known to be caused by mutations in at least 19 BBS genes. We report the genetic analysis of a patient with indisputable features of BBS including cardinal features such as postaxial polydactyly, retinitis pigmentosa, obesity, and kidney failure. Taking advantage of next-generation sequencing technology, we applied whole exome sequencing (WES) with Sanger direct sequencing to the proband and her unaffected mother. A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother. This mutation is not currently found in the dsSNP and 1000 Genome SNP databases and is predicted to be disease causing by in silico analysis. This study highlights the potential for a rapid and precise detection of disease causing gene using WES in genetically heterogeneous disorders such as BBS. Twit Text FOAVip Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome ????Biomed Res Int http://www.kidney.de/pget.php?&tw=1&pmid=26078953 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26078953 #FOAvip English Wikipedia <ref>{{Cite pmid|26078953 }}</ref> Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome #MMPMID26078953 Bee YM ; Chawla M ; Zhao Y Biomed Res Int 2015[]; 2015 (ä): 524754 PMID26078953 show ga Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder known to be caused by mutations in at least 19 BBS genes. We report the genetic analysis of a patient with indisputable features of BBS including cardinal features such as postaxial polydactyly, retinitis pigmentosa, obesity, and kidney failure. Taking advantage of next-generation sequencing technology, we applied whole exome sequencing (WES) with Sanger direct sequencing to the proband and her unaffected mother. A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother. This mutation is not currently found in the dsSNP and 1000 Genome SNP databases and is predicted to be disease causing by in silico analysis. This study highlights the potential for a rapid and precise detection of disease causing gene using WES in genetically heterogeneous disorders such as BBS. |*High-Throughput Nucleotide Sequencing [MESH] |Adult [MESH] |Bardet-Biedl Syndrome/*genetics/pathology [MESH] |DNA Mutational Analysis [MESH] |Exome/genetics [MESH] |Female [MESH] |Humans [MESH] |Mutation [MESH] |Pedigree [MESH]Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in (epmc).pdf DeepDyve Pubget Overpricing