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Article

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

Scientific reports - 24 Mar 2020

Arai Yoshikazu, Umeyama Kazuhiro, Okazaki Natsumi, Nakano Kazuaki, Nishino Koichiro, Nagashima Hiroshi, Ohgane Jun

Abstract excerpt

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 are likely to contribute to the disease. In this study, we examined the regulation of FBN1 in porcine Marfan...

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Identifiers

PMID: 32210272
DOI: 10.1038/s41598-020-62127-3
PMCID: PMC7093481

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome.PMID 32210272Read ↗

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