Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
Perrault 综合征是由 CLPP 的隐性突变引起的,该基因编码一种线粒体 ATP 依赖性腔内蛋白酶
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.02.013
Emma M Jenkinson, Atteeq U Rehman, Tom Walsh, Jill Clayton-Smith, Kwanghyuk Lee, Robert J Morell, Meghan C Drummond, Shaheen N Khan, Muhammad Asif Naeem, Bushra Rauf, Neil Billington, Julie M Schultz, Jill E Urquhart, Ming K Lee, Andrew Berry, Neil A Hanley, Sarju Mehta, Deirdre Cilliers, Peter E Cl