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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants
bioRxiv - Pathology Pub Date : 2020-04-19 , DOI: 10.1101/663609 Bernt Popp , Ramona Erber , Cornelia Kraus , Georgia Vasileiou , Juliane Hoyer , Stefanie Burghaus , Arndt Hartmann , Matthias W. Beckmann , André Reis , Abbas Agaimy
bioRxiv - Pathology Pub Date : 2020-04-19 , DOI: 10.1101/663609 Bernt Popp , Ramona Erber , Cornelia Kraus , Georgia Vasileiou , Juliane Hoyer , Stefanie Burghaus , Arndt Hartmann , Matthias W. Beckmann , André Reis , Abbas Agaimy
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.
中文翻译：
FH缺陷型子宫平滑肌瘤的靶向测序揭示了双等位基因失活的体性富马酸酶变体，并能够表征错义变体
子宫平滑肌瘤在普通女性人群中构成相当大的健康负担。富马酸水合酶（FH）缺陷亚型的比例高达1.6％，可发生于遗传性平滑肌瘤病和肾细胞癌（HLRCC）综合征。
更新日期：2020-04-19
中文翻译：
FH缺陷型子宫平滑肌瘤的靶向测序揭示了双等位基因失活的体性富马酸酶变体，并能够表征错义变体
子宫平滑肌瘤在普通女性人群中构成相当大的健康负担。富马酸水合酶（FH）缺陷亚型的比例高达1.6％，可发生于遗传性平滑肌瘤病和肾细胞癌（HLRCC）综合征。
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