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Article

Genetics of hereditary large vessel diseases.

Journal of human genetics - 1 Jan 2016

Morisaki Takayuki, Morisaki Hiroko

Abstract excerpt

Recent progress in the study of hereditary large vessel diseases such as Marfan syndrome (MFS) have not only identified responsible genes but also provided better understanding of the pathophysiology and revealed possible new therapeutic targets. Genes identified for these diseases include FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, SKI, EFEMP2, COL3A1, FLNA, ACTA2, MYH11, MYLK and SLC2A10, as well as others....

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Source

Identifiers

PMID: 26446364
DOI: 10.1038/jhg.2015.119

Genes

ACTA2
EFEMP2
FBN1
FLNA
MYH11
MYLK
SKI
SMAD3
TGFB2
TGFB3
TGFBR1
TGFBR2

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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