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pro vyhledávání: '"Mathew F. Hunter"'
Autor:
Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active-unmethylated alleles has prognostic uti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe1aad712bb4a2e2b8f25fd39879e43
https://pubmed.ncbi.nlm.nih.gov/36349505
https://pubmed.ncbi.nlm.nih.gov/36349505
