A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

Large numbers of genes are responsible for Leigh syndrome (LS), making genetic confirmation of LS difficult. We screened our patients with LS using a limited set of 21 primers encompassing the frequently reported gene for the respiratory chain complexes I (ND1–ND6, and ND4L), IV(SURF1), and V(ATP6)...

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Detalles Bibliográficos
Autores principales: Shimbo, Hiroko, Takagi, Mariko, Okuda, Mitsuko, Tsuyusaki, Yu, Takano, Kyoko, Iai, Mizue, Yamashita, Sumimasa, Murayama, Kei, Ohtake, Akira, Goto, Yu-ichi, Aida, Noriko, Osaka, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121298/
https://www.ncbi.nlm.nih.gov/pubmed/27896082
http://dx.doi.org/10.1016/j.ymgmr.2014.02.006

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