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