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NHLRC1 repeat expansion in two Beagles with Lafora disease

Lafora disease is a fatal genetic disorder with neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by genetic variants in the EPM2A or NHLRC1 genes. There is a known sequence variant in Miniature Wirehaired Dachshunds but not in different dog breeds, including in Beagle dogs...

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Detalhes bibliográficos
Publicado no:J Small Anim Pract
Main Authors: HAJEK, IVO, KETTNER, FRANK, SIMERDOVA, VERONIKA, RUSBRIDGE, CLARE, WANG, PEIXIANG, MINASSIAN, BERGE A., PALUS, VIKTOR
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5658008/
https://ncbi.nlm.nih.gov/pubmed/27747878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jsap.12593
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