A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV

The American Journal of Human Genetics - Tập 65 - Trang 611-620 - 1999
Claudio Bruno1,2, Andrea Martinuzzi3, Yingying Tang4, Antoni L. Andreu1,5, Francesco Pallotti1, Eduardo Bonilla1, Sara Shanske1, Jin Fu1, Carolyn M. Sue1, Corrado Angelini6, Salvatore DiMauro1, Giovanni Manfredi1
1Department of Neurology, Columbia University College of Physicians and Surgeons, New York
2Department of Pediatrics, Istituto Giannina Gaslini, University of Genoa, Genoa
3Scientific Institute E. Medea, Conegliano Research Center, Conegliano, Italy
4Department of Genetics and Development, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York
5Centre d'Investigacions en Bioquimica i Biologia Molecular, Hospitals Vall d'Hebron, Barcelona
6Department of Neurology, University of Padua, Padua

Tài liệu tham khảo

Thông tin
Thông tin xuất bản

The American Journal of Human Genetics

Tập 65

611-620

Thông tin tác giả