ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-020-02161-3.pdf
Reference55 articles.
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2. Afgan E, Baker D, van den Beek M, Blankenberg D, Bouvier D, Cech M, Chilton J, Clements D, Coraor N, Eberhard C, Gruning B, Guerler A, Hillman-Jackson J, Von Kuster G, Rasche E, Soranzo N, Turaga N, Taylor J, Nekrutenko A, Goecks J (2016) The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2016 update. Nucleic Acids Res 44:W3–W10. https://doi.org/10.1093/nar/gkw343
3. Aggarwal A, Chandhok G, Todorov T, Parekh S, Tilve S, Zibert A, Bhatt M, Schmidt HH (2013) Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p. C271* as a common Indian mutation and identification of 14 novel mutations. Ann Hum Genet 77:299–307. https://doi.org/10.1111/ahg.12024
4. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007) Wilson's disease. Lancet 369:397–408. https://doi.org/10.1016/S0140-6736(07)60196-2
5. Bost M, Lachaux A, Accominotti M, Vandenberghe A (1999) Mutation screening and genotype-phenotype correlation in 32 families with Wilson disease. J Trace Elem Exp Med 12:321–329. https://doi.org/10.1002/(Sici)1520-670x(1999)12:4%3c321:Aid-Jtra5%3e3.0.Co;2-Y
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