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A novel mutation in USF1 gene is associated with familial combined hyperlipidemia
IUBMB Life ( IF 3.7 ) Pub Date : 2019-11-14 , DOI: 10.1002/iub.2186
Eskandar Taghizadeh 1, 2 , Farzaneh Mirzaei 1 , Nazanin Jalilian 3 , Majid Ghayour Mobarhan 4 , Gordon A Ferns 5 , Alireza Pasdar 1, 6, 7
Affiliation  

Familial combined hyperlipidemia or FCHL is one of the most common genetic causes of hyperlipidemia and is associated with elevation of cholesterol, triglycerides or both, and increased serum apolipoprotein B (apoB). Linkage analysis and next generation sequencing have been successfully used for identifying rare genetic variants that have moderate‐to‐large effects.

中文翻译:

USF1基因的一个新突变与家族性联合高脂血症有关

家族性联合高脂血症或 FCHL 是高脂血症最常见的遗传原因之一,与胆固醇、甘油三酯或两者的升高以及血清载脂蛋白 B (apoB) 升高有关。连锁分析和下一代测序已成功用于鉴定具有中到大影响的罕见遗传变异。
更新日期:2019-11-14
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