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

Authors :: Gregersen N
Andresen BS
Bross P
Winter V
Rüdiger N
Engst S
Ghisla S
Christensen E
Kelly D
Strauss AW
Source :: Journal of inherited metabolic disease [J Inherit Metab Dis] 1991; Vol. 14 (3), pp. 314-6.
Publication Year :: 1991

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

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