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http://scihub22266oqcxt.onion/ C5524433!5524433!28761321     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Mol+Vis 2017 ; 23 (ä): 482-94 Nephropedia Template TP {{tp|p=28761321|t=2017. Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families |pdf=|usr=}}{{28761321}} gab.com Text Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families JO: Mol Vis http://www.kidney.de/pget.php?&tw=1&pmid=28761321 #FOAvip Purpose: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin. Methods: Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome 14q32.1, and in family D to BBS10 on chromosome 12q21.2. Family E was investigated directly with exome sequence analysis. Results: Sanger sequencing revealed two novel mutations and three previously reported mutations in the BBS genes. These mutations include two deletions (c.580_582delGCA, c.1592_1597delTTCCAG) in the BBS7 gene, a missense mutation (p.Gln449His) in the BBS8 gene, a frameshift mutation (c.271_272insT) in the BBS10 gene, and a nonsense mutation (p.Ser40*) in the MKKS (BBS6) gene. Conclusions: Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing BBS. Twit Text FOAVip Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families ????Mol Vis http://www.kidney.de/pget.php?&tw=1&pmid=28761321 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28761321 #FOAvip English Wikipedia <ref>{{Cite pmid|28761321}}</ref> Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families #MMPMID28761321 Ullah A; Umair M; Yousaf M; Khan SA; Nazim-ud-din M; Shah K; Ahmad F; Azeem Z; Ali G; Alhaddad B; Rafique A; Jan A; Haack TB; Strom TM; Meitinger T; Ghous T; Ahmad W Mol Vis 2017[]; 23 (ä): 482-94 PMID28761321show ga Purpose: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin. Methods: Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome 14q32.1, and in family D to BBS10 on chromosome 12q21.2. Family E was investigated directly with exome sequence analysis. Results: Sanger sequencing revealed two novel mutations and three previously reported mutations in the BBS genes. These mutations include two deletions (c.580_582delGCA, c.1592_1597delTTCCAG) in the BBS7 gene, a missense mutation (p.Gln449His) in the BBS8 gene, a frameshift mutation (c.271_272insT) in the BBS10 gene, and a nonsense mutation (p.Ser40*) in the MKKS (BBS6) gene. Conclusions: Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing BBS. äSequence variants in four genes underlying Bardet-Biedl syndrome in co(epmc).pdf DeepDyve Pubget Overpricing