Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.

Nguyen, M

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder. [electronic resource] - Clinical genetics 01 2017 - 121-125 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1399-0004

10.1111/cge.12774 doi


Base Sequence
Consanguinity
Exome--genetics
Exons--genetics
Family Health
Female
Genetic Predisposition to Disease--genetics
Humans
Male
Mitochondrial Proteins--genetics
Mutation
Optic Atrophies, Hereditary--genetics
Parents
Pedigree
Phosphate Transport Proteins--genetics
RNA Splice Sites--genetics
Sequence Analysis, DNA--methods