- Tytuł:
- A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
- Autorzy:
- Temat:
-
LACTIC acidosis
CYTOCHROME oxidase
GENETIC disorders in children
GENETIC mutation
MOLECULAR diagnosis - Źródło:
- European Journal of Human Genetics; Jul2015, Vol. 23 Issue 7, p935-939, 5p
Czasopismo naukowe