Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.

Chambliss, K L

Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. [electronic resource] - Journal of inherited metabolic disease Jul 2000 - 497-504 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0141-8955

10.1023/a:1005616315087 doi


Aldehyde Oxidoreductases--deficiency
Amino Acid Metabolism, Inborn Errors--enzymology
Amino Acid Substitution
Base Sequence
Case-Control Studies
DNA Primers--genetics
DNA, Complementary--genetics
Exons
Female
Homozygote
Humans
Introns
Male
Methylmalonate-Semialdehyde Dehydrogenase (Acylating)
Point Mutation
Valine--metabolism