Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A
POLR1A基因纯合突变的兄弟患有严重的神经退行性疾病
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2016.183
Kara, Bülent; Köroğlu, Çiğdem; Peltonen, Karita; Steinberg, Ruchama C; Maraş Genç, Hülya; Hölttä-Vuori, Maarit; Güven, Ayşe; Kanerva, Kristiina; Kotil, Tuğba; Solakoğlu, Seyhun; Zhou, You; Olkkonen, Vesa M; Ikonen, Elina; Laiho, Marikki; Tolun, Aslıhan