Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants

Uterine leiomyomas (ULs) constitute a considerable health burden in the general female population. The fumarate hydratase (FH) deficient subtype is found in up to 1.6% and can occur in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. We sequenced 13 FH deficient ULs from a previo...

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Detalles Bibliográficos
Autores principales: Popp, Bernt, Erber, Ramona, Kraus, Cornelia, Vasileiou, Georgia, Hoyer, Juliane, Burghaus, Stefanie, Hartmann, Arndt, Beckmann, Matthias W., Reis, André, Agaimy, Abbas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581509/
https://www.ncbi.nlm.nih.gov/pubmed/32612247
http://dx.doi.org/10.1038/s41379-020-0596-y

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