当前位置：
X-MOL 学术
›
Mol. Genet. Genomic Med.
›
论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-05-28 , DOI: 10.1002/mgg3.1293 Kelsey E Breen 1 , Maria I Carlo 1 , Yelena Kemel 2 , Anna Maio 1 , Ying-Bei Chen 3 , Liying Zhang 4 , Ozge Ceyhan-Birsoy 3 , Diana Mandelker 3
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-05-28 , DOI: 10.1002/mgg3.1293 Kelsey E Breen 1 , Maria I Carlo 1 , Yelena Kemel 2 , Anna Maio 1 , Ying-Bei Chen 3 , Liying Zhang 4 , Ozge Ceyhan-Birsoy 3 , Diana Mandelker 3
Affiliation
|
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC), caused by heterozygous germline pathogenic variants in the FH, confers an increased risk for cutaneous and uterine leiomyomas and renal cancer.
中文翻译：
富马酸盐水合酶c.914T> C（p.Phe305Ser）是与遗传性平滑肌瘤病和肾细胞癌综合征相关的致病变体。
由FH中杂合的种系致病性变异引起的遗传性平滑肌瘤病和肾细胞癌综合征（HLRCC）使皮肤和子宫平滑肌瘤和肾癌的风险增加。
更新日期：2020-05-28
中文翻译：
富马酸盐水合酶c.914T> C（p.Phe305Ser）是与遗传性平滑肌瘤病和肾细胞癌综合征相关的致病变体。
由FH中杂合的种系致病性变异引起的遗传性平滑肌瘤病和肾细胞癌综合征（HLRCC）使皮肤和子宫平滑肌瘤和肾癌的风险增加。
京公网安备 11010802027423号