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Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3′-phosphate and 3′-phosphoglycolate ends

Aprataxin is the causative gene product for early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological. Although aprataxin has been suggested to be related to DNA single-strand brea...

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Detalles Bibliográficos
Autores principales: Takahashi, Tetsuya, Tada, Masayoshi, Igarashi, Shuichi, Koyama, Akihide, Date, Hidetoshi, Yokoseki, Akio, Shiga, Atsushi, Yoshida, Yutaka, Tsuji, Shoji, Nishizawa, Masatoyo, Onodera, Osamu
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1920238/
https://www.ncbi.nlm.nih.gov/pubmed/17519253
http://dx.doi.org/10.1093/nar/gkm158