DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome

Fibrillin-1 (FBN1) is responsible for haploinsufficient and autosomal dominant Marfan syndrome. Even in the same Marfan pedigree, penetrance and expressivity in heterozygous individuals can differ and result in variable disease onset and severity. Thus, other factors in addition to mutations in FBN1...

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Detalles Bibliográficos
Autores principales: Arai, Yoshikazu, Umeyama, Kazuhiro, Okazaki, Natsumi, Nakano, Kazuaki, Nishino, Koichiro, Nagashima, Hiroshi, Ohgane, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093481/
https://www.ncbi.nlm.nih.gov/pubmed/32210272
http://dx.doi.org/10.1038/s41598-020-62127-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093481/
https://www.ncbi.nlm.nih.gov/pubmed/32210272
http://dx.doi.org/10.1038/s41598-020-62127-3

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