13 novel putative mutations in ATP7A found in a cohort of 25 Italian families
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry
Link
http://link.springer.com/article/10.1007/s11011-017-0010-8/fulltext.html
Reference44 articles.
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2. Banci L, Bertini I, Cantini F, Inagaki S, Migliardi M, Rosato A (2010) The binding mode of ATP revealed by the solution structure of the N-domain of human ATP7A. J Biol Chem 285(4):2537–2544. doi: 10.1074/jbc.M109.054262
3. Banci L, Bertini I, Cantini F, Migliardi M, Natile G, Nushi F, Rosato A (2009) Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteins. Biochemistry 48(33):7849–7855. doi: 10.1021/bi901003k
4. Choi Y, Chan AP (2015) PROVEAN web server: a tool to predict the functional effect of amino acid substitution and indels. Bioinformatics 31(16):2745–2747. doi: 10.1093/bioinformatics/btv195
5. Dagenais SL, Adam AN, Innis JW, Glover TW (2001) A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. Am J Hum Genet 69(2):420–427. doi: 10.1086/321290
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