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Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome

Silver-Russell syndrome (SRS) is a representative imprinting disorder. A major cause is the loss of methylation (LOM) of imprinting control region 1 (ICR1) within the IGF2/H19 domain. ICR1 is a gametic differentially methylated region (DMR) consisting of two repeat blocks, with each block including...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Higashimoto, Ken, Watanabe, Hijiri, Tanoue, Yuka, Tonoki, Hidefumi, Tokutomi, Tomoharu, Hara, Satoshi, Yatsuki, Hitomi, Soejima, Hidenobu
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8142445/
https://ncbi.nlm.nih.gov/pubmed/32447322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-106907
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