Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease-Reference-Cited by-同舟云学术

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

Published:2022-03-10 Issue:7 Volume:6 Page:1611-1619
ISSN:2471-254X
Container-title:Hepatology Communications
language:en
Short-container-title:Hepatol Commun

Author:

Panzer Marlene,Viveiros André,Schaefer Benedikt,Baumgartner Nadja,Seppi Klaus,Djamshidian Atbin,Todorov Theodor,Griffiths William J. H.,Schott Eckart,Schuelke Markus,Eurich Dennis,Stättermayer Albert Friedrich,Bomford Adrian,Foskett Pierre,Vodopiutz Julia,Stauber Rudolf,Pertler Elke,Morell Bernhard,Tilg Herbert,Müller Thomas,Kiechl Stefan,Jimenez‐Heredia Raul,Weiss Karl Heinz,Hahn Si Houn,Janecke Andreas,Ferenci Peter,Zoller Heinz

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Hepatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/hep4.1922

Reference39 articles.

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4. Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease;Hepatology,2019

5. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease;Mol Genet Metab,2005

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