Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Francisca Millian Zamora"'
Autor:
Renkui Bai, John M. Graham, Margaret G. Au, Maria Gabriela Otero, Emmanuelle Tiongson, Jaemin Kim, Francisca Millian Zamora, Tyler Mark Pierson, Katherine D. Mathews, Hong Cui, Ashley Collier, Katrina Haude, Cynthia J. Tifft, Frank Diaz, David H. Adams, Camilo Toro, Lesley Turner, David Buckley, Karin Panzer, Richard A. Lewis, William A. Gahl
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 6, iss 1
Annals of clinical and translational neurology, vol 6, iss 1
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families. We report four subjects with features th