Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome
X连锁显性小眼畸形伴线性皮肤缺陷综合征中线粒体全细胞色素c型合成酶的突变
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/508474
Wimplinger, Isabella; Morleo, Manuela; Rosenberger, Georg; Iaconis, Daniela; Orth, Ulrike; Meinecke, Peter; Lerer, Israela; Ballabio, Andrea; Gal, Andreas; Franco, Brunella; Kutsche, Kerstin
