Application | Comment | Organism |
---|---|---|
medicine | among 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency, mutation c.449-452delCTGA accounts for 45%. Seven of 10 independent patients carried at least one copy of the mutation. Phenotypes of homozygous patients with the c.449-452delCTGA mutation varied from asymtomatic to life-threatening metabolic decompensations | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | among 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency, mutation c.449-452delCTGA accounts for 45%. Seven of 10 independent patients carried at least one copy of the mutation. Phenotypes of homozygous patients with the c.449-452delCTGA mutation varied from asymtomatic to life-threatening metabolic decompensations | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency | - |