Dikoglu, Esra

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