Literature DB >> 19673950

Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1.

E Tosetto, M Ceol, F Mezzabotta, A Ammenti, L Peruzzi, M R Caruso, G Barbano, G Vezzoli, G Colussi, G Vergine, M Giordano, N Glorioso, S Degortes, L Soldati, J Sayer, A D'Angelo, F Anglani.   

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Year:  2009        PMID： 19673950     DOI： 10.1111/j.1399-0004.2009.01212.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

Authors:  Radovan Bogdanović; Markus Draaken; Alma Toromanović; Maja Dordević; Natasa Stajić; Michael Ludwig
Journal:  Pediatr Nephrol       Date:  2010-08-01       Impact factor: 3.714

Review 2.  Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Authors:  Natasha Caminsky; Eliseos J Mucaki; Peter K Rogan
Journal:  F1000Res       Date:  2014-11-18

3.  Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.

Authors:  Franca Anglani; Angela D'Angelo; Luisa Maria Bertizzolo; Enrica Tosetto; Monica Ceol; Daniela Cremasco; Luciana Bonfante; Maria Antonietta Addis; Dorella Del Prete
Journal:  Springerplus       Date:  2015-09-15

4.  Complexity of the 5'UTR region of the CLCN5 gene: eleven 5'UTR ends are differentially expressed in the human kidney.

Authors:  Enrica Tosetto; Alberto Casarin; Leonardo Salviati; Alessandra Familiari; John C Lieske; Franca Anglani
Journal:  BMC Med Genomics       Date:  2014-07-07       Impact factor: 3.063

5.  Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.

Authors:  Tomohiko Inoue; China Nagano; Masafumi Matsuo; Tomohiko Yamamura; Nana Sakakibara; Tomoko Horinouchi; Yugo Shibagaki; Daisuke Ichikawa; Yuya Aoto; Shinya Ishiko; Shingo Ishimori; Rini Rossanti; Kazumoto Iijima; Kandai Nozu
Journal:  Clin Exp Nephrol       Date:  2020-03-22       Impact factor: 2.801
  5 in total

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