Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. [electronic resource]
- American journal of medical genetics. Part A Jul 2015
- 1501-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.37029 doi
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