Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. [electronic resource]
Producer: 20160317Description: 1501-9 p. digitalISSN:- 1552-4833
- ATP-Dependent Proteases -- genetics
- Base Sequence
- Craniofacial Abnormalities -- genetics
- Exome -- genetics
- Eye Abnormalities -- genetics
- Genes, Recessive -- genetics
- Growth Disorders -- genetics
- Hip Dislocation, Congenital -- genetics
- Humans
- Mitochondrial Proteins -- genetics
- Models, Genetic
- Molecular Sequence Data
- Mutation -- genetics
- Osteochondrodysplasias -- genetics
- Sequence Analysis, DNA
- Switzerland
- Tooth Abnormalities -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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