Expanding the clinical phenotype of IARS2-related mitochondrial disease. [electronic resource]
Producer: 20190522Description: 196 p. digitalISSN:- 1471-2350
- Adult
- Amino Acid Sequence
- Bone Diseases, Developmental -- diagnosis
- Cataract -- diagnosis
- Consanguinity
- Female
- Gene Expression
- Hearing Loss, Sensorineural -- diagnosis
- Hereditary Sensory and Autonomic Neuropathies -- diagnosis
- Homozygote
- Humans
- Isoleucine-tRNA Ligase -- genetics
- Leigh Disease -- diagnosis
- Male
- Mitochondrial Diseases -- diagnosis
- Models, Molecular
- Mutation, Missense
- Pedigree
- Protein Conformation
- Protein Subunits -- genetics
- Syndrome
- Exome Sequencing
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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