hypertriglyceridemias,familial 《英文msh詞典》Hypertriglyceridemias,Familial ; [入口詞] Hypertriglyceridemias,Familial ; [主題詞] Hyperlipoproteinemia Type IV ; [英文釋義] A familial disorder characterized by an isolated elevation in the plasma level of endogenously synthesized triglyceride carried in VLDL. It is considered to be an autosomal dominant trait.
hypertriglyceridemia,familial 《英文msh詞典》Hypertriglyceridemia,Familial ; [同義詞] Hypertriglyceridemia,Familial ; [主題詞] Hyperlipoproteinemia Type IV ; [中文釋義] 高甘油三酯血癥,家族性 ; [英文釋義] A familial disorder characterized by an isolated elevation in the plasma level of endogenously synthesized triglyceride carried in VLDL. It is considered to be an autosomal dominant trait.
One missense mutation was found in 48 hypertriglyceridemic patients and identified to be pro207-leu by sequencing, pedigree analysis of this proband has been carried out and showed that the pro band's father is also a carrier of this mutation 征得患者家屬的同意和支持,對其家族三代十人進行了完整的家系分析。家系分析顯示,先證者的突變來自其父親的遺傳。在外顯子6、7、8中未檢出基因突變。