CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia.
作者信息
Slimane M N, Lestavel S, Clavey V, Maatouk F, Ben Fahrat M H, Fruchart J C, Hammami M, Benlian P
机构信息
Laboratoire de Biochimie, Faculté de Médecine, 5019 Monastir, Tunisia.
出版信息
J Med Genet. 2002 Nov;39(11):e74. doi: 10.1136/jmg.39.11.e74.
Abstract
摘要
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CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia.突尼斯家族性高胆固醇血症家族中低密度脂蛋白受体基因的CYS127S（FH-凯鲁万）和D245N（FH-托泽尔）突变
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