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Biochemical and genetic analysis of Leigh syndrome patients in Korea

Sixteen Korean patients with Leigh syndrome were identified at the Seoul National University Children's Hospital in 2001-2006. Biochemical or molecular defects were identified in 14 patients (87.5%). Thirteen patients had respiratory chain enzyme defects; 9 had complex I deficiency, and 4 had c...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Chae, Jong-Hee, Lee, Jin Sook, Kim, Ki Joong, Hwang, Yong Seung, Hirano, Michio
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2007
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2731483/
https://ncbi.nlm.nih.gov/pubmed/18155376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.braindev.2007.11.001
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