A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome
CAV1 中的移码突变与严重的新生儿早衰和脂肪营养不良综合征有关
期刊:PLoS One
影响因子:2.9
doi:10.1371/journal.pone.0131797
Isabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, Ahmet Kurdoglu, Jason J Corneveaux, Ivana Malenica, Ryan Richholt, Guy Van Camp, Matt De Both, Shanker Swaminathan, Mari Turk, Keri Ramsey, David W Craig, Vinodh Narayanan, Matthew J Huentelman