Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation
描述一个患有常染色体显性遗传性高胆固醇血症的大家族,该家族与 APOE p.Leu167del 突变相关
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22215
Marduel, Marie; Ouguerram, Khadija; Serre, Valérie; Bonnefont-Rousselot, Dominique; Marques-Pinheiro, Alice; Erik Berge, Knut; Devillers, Martine; Luc, Gérald; Lecerf, Jean-Michel; Tosolini, Laurent; Erlich, Danièle; Peloso, Gina M; Stitziel, Nathan; Nitchké, Patrick; Jaïs, Jean-Philippe; Abifadel, Marianne; Kathiresan, Sekar; Leren, Trond Paul; Rabès, Jean-Pierre; Boileau, Catherine; Varret, Mathilde