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Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

Epigenetic regulation of gene expression is a source of genetic variation, which can mimic recessive mutations by creating transcriptional haploinsufficiency. Germline epimutations and genomic imprinting are typical examples, although their existence can be difficult to reveal. Genomic imprinting ca...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Zhou, Haiyan, Brockington, Martin, Jungbluth, Heinz, Monk, David, Stanier, Philip, Sewry, Caroline A., Moore, Gudrun E., Muntoni, Francesco
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society of Human Genetics 2006
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698560/
https://ncbi.nlm.nih.gov/pubmed/17033962
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