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pro vyhledávání: '"Jennifer H. Kaplan"'
Autor:
Elaine H. Zackai, Ralph J. DeBerardinis, Beverly S. Emanuel, Jennifer H. Kaplan, Danielle Conforto, Peter R. Kollros, Karen L. Russell
Publikováno v:
American Journal of Medical Genetics. :31-36
Autosomal dominant myoclonus-dystonia syndrome (MDS) is characterized by myoclonic and/or dystonic movements with onset as early as infancy. In most families, MDS is caused by mutations in the gene SGCE, which encodes epsilon -sarcoglycan and is loca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6018cf3294f5de095270617d513e3fc6
https://doi.org/10.1002/ajmg.a.20162
https://doi.org/10.1002/ajmg.a.20162
