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Article

Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos.

Molecular therapy : the journal of the American Society of Gene Therapy - 7 Nov 2018

Zeng Yanting, Li Jianan, Li Guanglei, Huang Shisheng, Yu Wenxia, Zhang Yu, Chen Dunjin, Chen Jia, Liu Jianqiao, Huang Xingxu

Abstract excerpt

There are urgent demands for efficient treatment of heritable genetic diseases. The base editing technology has displayed its efficiency and precision in base substitution in human embryos, providing a potential early-stage treatment for genetic diseases. Taking advantage of this technology, we corrected a Marfan syndrome pathogenic mutation, FBN1T7498C. We first tested the feasibility in mutant cells, then...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30166242
DOI: 10.1016/j.ymthe.2018.08.007
PMCID: PMC6224777

Genes

FBN1

Provenance

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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