Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
编码细胞内磷脂酶A(1)的DDHD2基因突变会导致一种隐性遗传性复杂性痉挛性截瘫。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.10.017
Schuurs-Hoeijmakers, Janneke H M; Geraghty, Michael T; Kamsteeg, Erik-Jan; Ben-Salem, Salma; de Bot, Susanne T; Nijhof, Bonnie; van de Vondervoort, Ilse I G M; van der Graaf, Marinette; Nobau, Anna Castells; Otte-Höller, Irene; Vermeer, Sascha; Smith, Amanda C; Humphreys, Peter; Schwartzentruber, Jeremy; Ali, Bassam R; Al-Yahyaee, Saeed A; Tariq, Said; Pramathan, Thachillath; Bayoumi, Riad; Kremer, Hubertus P H; van de Warrenburg, Bart P; van den Akker, Willem M R; Gilissen, Christian; Veltman, Joris A; Janssen, Irene M; Vulto-van Silfhout, Anneke T; van der Velde-Visser, Saskia; Lefeber, Dirk J; Diekstra, Adinda; Erasmus, Corrie E; Willemsen, Michèl A; Vissers, Lisenka E L M; Lammens, Martin; van Bokhoven, Hans; Brunner, Han G; Wevers, Ron A; Schenck, Annette; Al-Gazali, Lihadh; de Vries, Bert B A; de Brouwer, Arjan P M
