Journal Article
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease
Alejandro Horga; Andreea Manole; Alice L. Mitchell; Enrico Bugiardini; Iain P. Hargreaves; Walied Mowafi; Conceição Bettencourt; Emma L. Blakely; Langping He; James M. Polke; Catherine E. Woodward; Ilaria Dalla Rosa; Sachit Shah; Alan M. Pittman; Ros Quinlivan; Mary M. Reilly; Robert W. Taylor; Ian J. Holt; Michael G. Hanna; Robert D. S. Pitceathly; Antonella Spinazzola; Henry Houlden
Molecular Biology Reports · Vol. 48, Issue 3 · pp. 2093-2104 · 2021