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Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia

Background/Aim. Wilson’s disease (WD) is an autosomal-recessive disorder which is characterized with a marked clinical heterogeneity. The gene responsible for WD is located in 13q14.3 chromosome, contains 21 exons and codes for copper specific transporting P-type adenosinetriphosphatase (ATPase)...

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Tallennettuna:
Päätekijät: Tomić Aleksandra, Dobričić Valerija, Novaković Ivana, Svetel Marina, Pekmezović Tatjana, Kresojević Nikola, Potrebić Aleksandra, Kostić Vladimir S.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade 2013-01-01
Sarja:Vojnosanitetski Pregled
Aiheet:
hepatolenticular degeneration
diagnosis
genotype
phenotype
Linkit:http://www.doiserbia.nb.rs/img/doi/0042-8450/2013/0042-84501305457T.pdf
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