Cytochrome a3 deficiency in human achondroplasia - MACKLER, B; DAVIS, K. A; GRACE, R (Biochimica et biophysica acta, 1987)
Keywords: Achondroplasia - enzymology; Achondroplasia - genetics; Biological and medical sciences; Cytochrome a Group; Cytochrome b Group - metabolism; Cytochrome-c Oxidase Deficiency; Cytochromes - metabolism; Diseases of the osteoarticular system; Fibroblasts - enzymology; Genetic Carrier Screening; Homozygote; Humans; Infant; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Mitochondria - enzymology; Reference Values; Skin - enzymology; Succinate Dehydrogenase - metabolism; Achondroplasia; Cytochrome aa3; Osteochondrodysplasia; Deficiency