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Article

Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas.

International journal of molecular sciences - 27 Jan 2022

Li Ping, Wu Yanru, Wu Huizhi, Xiong Qiuhong, Zhao Na, Chen Guangxin, Wu Changxin, Xiao Han

Abstract excerpt

The FH gene encodes the fumarate hydratase of the Krebs cycle and functions as a homotetramer to catalyze the hydration of fumarate to malate. Mutations in FH result in uterine leiomyomas, a rare autosomal dominant inherited metabolic disease. However, how FH mutations result in this disease is poorly understood. Here, the FH mutation c.557G>A (p.S186N) was identified in a family with uterine leiomyomas...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35163394
DOI: 10.3390/ijms23031452
PMCID: PMC8836152

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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