Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I
丝氨酸棕榈酰转移酶SPTLC2亚基的突变会导致I型遗传性感觉和自主神经病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2010.09.010
Rotthier, Annelies; Auer-Grumbach, Michaela; Janssens, Katrien; Baets, Jonathan; Penno, Anke; Almeida-Souza, Leonardo; Van Hoof, Kim; Jacobs, An; De Vriendt, Els; Schlotter-Weigel, Beate; Löscher, Wolfgang; Vondráček, Petr; Seeman, Pavel; De Jonghe, Peter; Van Dijck, Patrick; Jordanova, Albena; Hornemann, Thorsten; Timmerman, Vincent
