Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study-Reference-Cited by-同舟云学术

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Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study

Published:2012-07-05 Issue:9 Volume:57 Page:564-567
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Hofer Harald,Willheim-Polli Claudia,Knoflach Peter,Gabriel Christian,Vogel Wolfgang,Trauner Michael,Müller Thomas,Ferenci Peter

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201265.pdf

Reference27 articles.

1. Kitzberger, R., Madl, C. & Ferenci, P. Wilson disease. Metab. Brain Dis. 20, 295–302 (2005).

2. Steindl, P., Ferenci, P., Dienes, H. P., Grimm, G., Pabinger, I., Madl, C. H. et al. Wilson’s disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 113, 212–218 (1997).

3. Ferenci, P., Steindl-Munda, P., Vogel, W., Jessner, W., Gschwantler, M., Stauber, R. et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson disease. Clin. Gastroenterol. Hepatol. 3, 811–818 (2005).

4. Ferenci, P., Caca, K., Loudianos, G., Mieli-Vergani, G., Tanner, S., Sternlieb, I. et al. Diagnosis and phenotypic classification of Wilson disease. Final report of the proceedings of the working party at the 8th international meeting on Wilson disease and Menkes disease, Leipzig/Germany, 2001. Liver Int. 23, 139–142 (2003).

5. Petrukhin, K., Fischer, S. G., Pirastu, M., Tanzi, R. E., Chernov, I., Devoto, M. et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat. Genet. 5, 338–343 (1993).

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions;International Journal of Molecular Sciences;2024-02-18

2. Wilson’s Disease—Genetic Puzzles with Diagnostic Implications;Diagnostics;2023-03-29

3. Wilson disease;Comprehensive Guide to Hepatitis Advances;2023

4. Correction: Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study;Journal of Human Genetics;2021-06-16

5. Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?;JHEP Reports;2020-08

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