Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome. [electronic resource]
Producer: 20210329Description: e1121 p. digitalISSN:- 2324-9269
- Cells, Cultured
- Child, Preschool
- Deaf-Blind Disorders -- genetics
- Dystonia -- genetics
- Fibroblasts -- metabolism
- Humans
- Intellectual Disability -- genetics
- Male
- Membrane Transport Proteins -- genetics
- Mitochondria -- metabolism
- Mitochondrial Precursor Protein Import Complex Proteins
- Mutation
- Optic Atrophy -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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