Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis
SourceHuman Genetics, 98, 6, (1996), pp. 735-737
Article / Letter to editor
Display more detailsDisplay less details
SubjectCentral Nervous System; Chemistry, Clinical; Energy Metabolism; Fibroblasts; Genetics, Biochemical; Hereditary Diseases; Homocystinuria; Mental Disorders; Metabolic Diseases; Metabolic Processes (Non MeSH); Metabolism, Inborn Errors; Mitochondria; Mitochondrial Myopathies; Muscle, Skeletal; Mutation; Neural Tube Defects; Neuromuscular Diseases; Pregnancy Complications, Cardiovascular; Vascular Diseases
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.