Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder. [electronic resource]
Producer: 20170613Description: 121-125 p. digitalISSN:- 1399-0004
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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