Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. [electronic resource]
Producer: 20010111Description: 497-504 p. digitalISSN:- 0141-8955
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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