CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

Autor Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina
Vydáno 2019-10-01

Identification and Characterization of New Variants in <i>FOXRED1</i> Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

Autor Sofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, Luis Gutiérrez-Solana, Liesbeth Wintjes, Antonia Kappen, Lambert van den Heuvel, Rosaura Leis, Richard Rodenburg, María Luz Couce
Vydáno 2019-08-01