Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease
COX7B基因突变会导致小眼畸形伴线性皮肤病变，这是一种非典型的线粒体疾病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.09.016
Indrieri, Alessia; van Rahden, Vanessa Alexandra; Tiranti, Valeria; Morleo, Manuela; Iaconis, Daniela; Tammaro, Roberta; D'Amato, Ilaria; Conte, Ivan; Maystadt, Isabelle; Demuth, Stephanie; Zvulunov, Alex; Kutsche, Kerstin; Zeviani, Massimo; Franco, Brunella
