Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome - Dikoglu, Esra; Alfaiz, Ali; Gorna, Maria; Bertola, Deborah; Chae, Jong Hee; Cho, Tae-Joon; Derbent, Murat; Alanay, Yasemin; Guran, Tulay; Kim, Ok-Hwa; Llerenar Jr, Juan C.; Yamamoto, Guillerme; et al. (American journal of medical genetics. Part A, 2015)
Keywords: ATP-Dependent Proteases - genetics; Base Sequence; cataract; CODAS; Craniofacial Abnormalities - genetics; Exome - genetics; Eye Abnormalities - genetics; Genes, Recessive - genetics; Growth Disorders - genetics; Hip Dislocation, Congenital - genetics; Humans; LONP1; mitochondrial protease; Mitochondrial Proteins - genetics; Models, Genetic; Molecular Sequence Data; Mutation - genetics; Osteochondrodysplasias - genetics; Sequence Analysis, DNA; skeletal dysplasia; Switzerland; Tooth Abnormalities - genetics; Switzerland; LONP1; cataract; skeletal dysplasia; CODAS; mitochondrial protease