Busquets, C

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