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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/2009, Volume 106, Issue 8, pp. 2794 - 2799
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Molecular Genetics and Metabolism, ISSN 1096-7192, 05/2019, Volume 127, Issue 1, pp. 107 - 115
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by progressive declines in neurological functions... 
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Proceedings of the National Academy of Sciences, USA, ISSN 0027-8424, 01/2016, Volume 113, Issue 1, pp. 152 - 152
Population bottlenecks, inbreeding, and artificial selection can all, in principle, influence levels of deleterious genetic variation. However, the relative... 
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Journal of the American Veterinary Medical Association, ISSN 0003-1488, 06/2013, Volume 242, Issue 12, pp. 1641 - 1643
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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2009, Volume 106, Issue 8, pp. 2794 - 2799
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Acta Veterinaria Scandinavica, ISSN 0044-605X, 2015, Volume 57, Issue 26
Conclusions: A KCNJ10 mutation, previously associated with an autosomal recessive spinocerebellar ataxia in Jack Russell Terriers, Parson Russell Terriers, and... 
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Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2013, Volume 108, Issue 1, pp. 70 - 75
GM2 gangliosidosis is a fatal lysosomal storage disease caused by a deficiency of beta -hexosaminidase (EC 3.2.1.52). There are two major isoforms of the... 
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PLoS ONE, ISSN 1932-6203, 10/2014, Volume 9, Issue 10, p. e109926
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