Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. [electronic resource]
- Molecular genetics and metabolism Nov 2000
- 535-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7192
10.1006/mgme.2000.3082 doi
Amino Acid Substitution DNA--chemistry DNA Mutational Analysis Genotype Glutarates--urine Glutaryl-CoA Dehydrogenase Haplotypes Humans Italy Metabolism, Inborn Errors--enzymology Mutation Oxidoreductases--genetics Oxidoreductases Acting on CH-CH Group Donors Polymorphism, Single-Stranded Conformational Portugal