Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
海姆勒综合征是由过氧化物酶体生物合成基因 PEX1 和 PEX6 的功能减弱突变引起的。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.08.011
Ratbi, Ilham; Falkenberg, Kim D; Sommen, Manou; Al-Sheqaih, Nada; Guaoua, Soukaina; Vandeweyer, Geert; Urquhart, Jill E; Chandler, Kate E; Williams, Simon G; Roberts, Neil A; El Alloussi, Mustapha; Black, Graeme C; Ferdinandusse, Sacha; Ramdi, Hind; Heimler, Audrey; Fryer, Alan; Lynch, Sally-Ann; Cooper, Nicola; Ong, Kai Ren; Smith, Claire E L; Inglehearn, Christopher F; Mighell, Alan J; Elcock, Claire; Poulter, James A; Tischkowitz, Marc; Davies, Sally J; Sefiani, Abdelaziz; Mironov, Aleksandr A; Newman, William G; Waterham, Hans R; Van Camp, Guy
