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

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 poor...

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Detalles Bibliográficos
Autores principales: Li, Ping, Wu, Yanru, Wu, Huizhi, Xiong, Qiuhong, Zhao, Na, Chen, Guangxin, Wu, Changxin, Xiao, Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836152/
https://www.ncbi.nlm.nih.gov/pubmed/35163394
http://dx.doi.org/10.3390/ijms23031452

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836152/
https://www.ncbi.nlm.nih.gov/pubmed/35163394
http://dx.doi.org/10.3390/ijms23031452

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