Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood
LPIN1基因突变导致儿童期复发性急性肌红蛋白尿
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2008.11.012
He, Bing; Osterholm, Anne-May; Hoverfält, Anna; Forsblom, Carol; Hjörleifsdóttir, Eyrún Edda; Nilsson, Ann-Sofie; Parkkonen, Maikki; Pitkäniemi, Janne; Hreidarsson, Astrádur; Sarti, Cinzia; McKnight, Amy Jayne; Maxwell, A Peter; Tuomilehto, Jaakko; Groop, Per-Henrik; Tryggvason, Karl; Bungartz, Kathryn D; Williamson, Robin E; Li, Hui; Kidd, Kenneth K; Garber, Kathryn B; Zeharia, Avraham; Shaag, Avraham; Houtkooper, Riekelt H; Hindi, Tareq; de Lonlay, Pascale; Erez, Gilli; Hubert, Laurence; Saada, Ann; de Keyzer, Yves; Eshel, Gideon; Vaz, Frédéric M; Pines, Ophry; Elpeleg, Orly