Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency

J Inherit Metab Dis. 1991;14(3):314-6. doi: 10.1007/BF01811691.

Authors

N Gregersen¹, B S Andresen, P Bross, V Winter, N Rüdiger, S Engst, S Ghisla, E Christensen, D Kelly, A W Strauss, et al.

Affiliation

¹ Molecular Genetic Laboratory, University Department of Clinical Chemistry, Aarhus Kommunehospital, Denmark.

PMID: 1770781
DOI: 10.1007/BF01811691

No abstract available

MeSH terms

Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases / deficiency*
Acyl-CoA Dehydrogenases / genetics
Base Sequence
Blotting, Northern
Blotting, Western
Haplotypes
Humans
Molecular Sequence Data
Mutation*
RNA, Messenger / analysis

Substances

RNA, Messenger
Acyl-CoA Dehydrogenases
Acyl-CoA Dehydrogenase