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pro vyhledávání: '"Pauline Megalli"'
Autor:
Pauline Megalli, Talia Eldar-Geva, Rachel Eiges, Silvina Epsztejn-Litman, Gheona Altarescu, Oshrat Schonberger, Shira Yanovsky-Dagan, Eliora Cohen
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, In press, ⟨10.1038/s41431-021-00999-3⟩
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-021-00999-3⟩
European Journal of Human Genetics, In press, ⟨10.1038/s41431-021-00999-3⟩
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-021-00999-3⟩
Myotonic dystrophy type 1 (DM1) is an autosomal dominant muscular dystrophy that results from a CTG expansion (50–4000 copies) in the 3′ UTR of the DMPK gene. The disease is classified into four or five somewhat overlapping forms, which incomplet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb160efea570c578bcea79982c7d05d
https://doi.org/10.1038/s41431-021-00999-3
https://doi.org/10.1038/s41431-021-00999-3
