Literature DB >> 16207219

Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.

T Todorov, A Savov, H Jelev, E Panteleeva, D Konstantinova, Z Krustev, V Mihaylova, I Tournev, L Tankova, N Tzolova, I Kremensky.   

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Year:  2005        PMID： 16207219     DOI： 10.1111/j.1399-0004.2005.00516.x

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


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  7 in total

Review 1.  Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

Authors:  Peter Ferenci
Journal:  Hum Genet       Date:  2006-06-22       Impact factor: 4.132

2.  Wilson's disease in two consecutive generations in a Bulgarian Roma family.

Authors:  V Mihaylova; T Todorov; H Jelev; S Cherninkova; M Raycheva; A Savov; I Kremensky; I Tournev
Journal:  J Neurol       Date:  2007-08-14       Impact factor: 4.849

Review 3.  Genetics and epigenetic factors of Wilson disease.

Authors:  Valentina Medici; Janine M LaSalle
Journal:  Ann Transl Med       Date:  2019-04

Review 4.  The genetics of Wilson disease.

Authors:  Irene J Chang; Si Houn Hahn
Journal:  Handb Clin Neurol       Date:  2017

Review 5.  The Pragmatic Treatment of Wilson's Disease.

Authors:  Annu Aggarwal; Mohit Bhatt
Journal:  Mov Disord Clin Pract       Date:  2014-04-10

Review 6.  The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.

Authors:  Candan Ariöz; Yaozong Li; Pernilla Wittung-Stafshede
Journal:  Biometals       Date:  2017-10-23       Impact factor: 2.949

7.  Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.

Authors:  Marlene Panzer; André Viveiros; Benedikt Schaefer; Nadja Baumgartner; Klaus Seppi; Atbin Djamshidian; Theodor Todorov; William J H Griffiths; Eckart Schott; Markus Schuelke; Dennis Eurich; Albert Friedrich Stättermayer; Adrian Bomford; Pierre Foskett; Julia Vodopiutz; Rudolf Stauber; Elke Pertler; Bernhard Morell; Herbert Tilg; Thomas Müller; Stefan Kiechl; Raul Jimenez-Heredia; Karl Heinz Weiss; Si Houn Hahn; Andreas Janecke; Peter Ferenci; Heinz Zoller
Journal:  Hepatol Commun       Date:  2022-03-10
  7 in total

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