Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is the most complex and variable trinucleotide repeat disorder caused by an unstable CTG repeat expansion, reaching up to 4000 CTG in the most severe cases. The genetic and clinical variability of DM1 depend on the sex and age of the transmitting parent, but also on t...

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Detalles Bibliográficos
Autores principales: Mangin, Antoine, de Pontual, Laure, Tsai, Yu-Chih, Monteil, Laetitia, Nizon, Mathilde, Boisseau, Pierre, Mercier, Sandra, Ziegle, Janet, Harting, John, Heiner, Cheryl, Gourdon, Geneviève, Tomé, Stéphanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7962047/
https://www.ncbi.nlm.nih.gov/pubmed/33807660
http://dx.doi.org/10.3390/ijms22052616

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