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Eckart Schott

ORCID: 0000-0001-7769-4029
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A5064882032
Research Areas
  • RNA and protein synthesis mechanisms
  • Trace Elements in Health
  • RNA regulation and disease

Helios Klinikum Emil von Behring
 2022

 Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease
OPENALEX - Publications 
Marlene Panzer André Viveiros Benedikt Schaefer Nadja Baumgartner Klaus Seppi and 22 more Atbin Djamshidian Т. Тодоров William Griffiths Eckart Schott Markus Schuelke Dennis Eurich Albert Friedrich Stättermayer Adrian Bomford Pierre Foskett Julia Vodopiutz Rudolf Stauber Elke Pertler Bernhard Morell Herbert Tilg Andreas Th. Müller Stefan Kiechl Raúl Jiménez Heredia Karl Heinz Weiss Si Houn Hahn Andreas Janecke Péter Ferenci Heinz Zoller

Abstract Wilson disease (WD) is caused by biallelic pathogenic variants in adenosine triphosphatase copper‐transporting beta (ATP7B); however, genetic testing identifies only one or no ATP7B variant a number of patients with WD. Synonymous single‐nucleotide sequence have been recognized as individual families. The aim the present study was to evaluate prevalence and mechanism synonymous c.2292C>T (p.Phe764=) A cohort 280 WD heterozygous for single investigated presence (p.Phe764=). In...

10.1002/hep4.1922 article EN cc-by-nc-nd Hepatology Communications 2022-03-10
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