Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Abrams, Alexander J.; Hufnagel, Robert B.; Rebelo, Adriana; Zanna, Claudia; Patel, Neville; Gonzalez, Michael A.; Campeanu, Ion J.; Griffin, Laurie B.; Groenewald, Saskia; Strickland, Alleene V.; Tao, Feifei; Speziani, Fiorella; Abreu, Lisa; Schuele, Rebecca; Caporali, Leonardo; La Morgia, Chiara; Maresca, Alessandra; Liguori, Rocco; Lodi, Raffaele; Ahmed, Zubair M.; Sund, Kristen L.; Wang, Xinjian; Krueger, Laura A.; Peng, Yanyan; Prada, Carlos E.; Prows, Cynthia A.; Schorry, Elizabeth K.; Antonellis, Anthony; Zimmerman, Holly H.; Abdul-Rahman, Omar A.; Yang, Yaping; Downes, Susan M.; Prince, Jeffery; Fontanesi, Flavia; Barrientos, Antonio; Nemeth, Andrea H.; Carelli, Valerio; Huang, Taosheng; Zuchner, Stephan; Dallman, Julia E.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Autor(en):

Abrams, Alexander J.; Hufnagel, Robert B.; Rebelo, Adriana; Zanna, Claudia; Patel, Neville; Gonzalez, Michael A.; Campeanu, Ion J.; Griffin, Laurie B.; Groenewald, Saskia; Strickland, Alleene V.; Tao, Feifei; Speziani, Fiorella; Abreu, Lisa; Schuele, Rebecca; Caporali, Leonardo; La Morgia, Chiara; Maresca, Alessandra; Liguori, Rocco; Lodi, Raffaele; Ahmed, Zubair M.; Sund, Kristen L.; Wang, Xinjian; Krueger, Laura A.; Peng, Yanyan; Prada, Carlos E.; Prows, Cynthia A.; Schorry, Elizabeth K.; Antonellis, Anthony; Zimmerman, Holly H.; Abdul-Rahman, Omar A.; Yang, Yaping; Downes, Susan M.; Prince, Jeffery; Fontanesi, Flavia; Barrientos, Antonio; Nemeth, Andrea H.; Carelli, Valerio; Huang, Taosheng; Zuchner, Stephan; Dallman, Julia E.

Tübinger Autor(en):

Schüle-Freyer, Rebecca

Erschienen in:

Nature Genetics (2015), Bd. 47, H. 8, S. 926-

Verlagsangabe:

Nature Publishing Group

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1038/ng.3354

ISSN:

1061-4036