DNA Methylation in the Diagnosis of Monogenic Diseases

DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as conse...

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Detalhes bibliográficos
Main Authors: Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri, Cristiana Lo Nigro, Giuseppe Merla, Monica Miozzo, Silvia Russo, Eugenio Sangiorgi, Silvia M Sirchia, Gabriella Maria Squeo, Silvia Tabano, Elisabetta Tabolacci, Isabella Torrente, Maurizio Genuardi, Giovanni Neri, Andrea Riccio
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2020-03-01
Colecção:Genes
Assuntos:
dna methylation
genetic testing
high-throughput analysis
epi-signatures
developmental delay/intellectual disability disorders
imprinting disorders
hereditary tumors
neuromuscular diseases
prenatal diagnosis
Acesso em linha:https://www.mdpi.com/2073-4425/11/4/355
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