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FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function
Structural maintenance of chromosomes flexible hinge domain-containing 1 (Smchd1) plays important roles in epigenetic silencing and normal mammalian development. Recently, heterozygous mutations in SMCHD1 have been reported in two disparate disorders: facioscapulohumeral muscular dystrophy type 2 (F...
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| Pubblicato in: | J Biol Chem |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Biochemistry and Molecular Biology
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6016475/ https://ncbi.nlm.nih.gov/pubmed/29748383 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.003104 |
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