3-Methylglutaconic aciduria type I is caused by mutations in AUH. [electronic resource]
- American journal of human genetics Dec 2002
- 1463-6 p. digital
Publication Type: Journal Article
0002-9297
10.1086/344712 doi
Acyl Coenzyme A--metabolism DNA Mutational Analysis Enoyl-CoA Hydratase--metabolism Fibroblasts Genes, Recessive--genetics Humans Hydro-Lyases--deficiency Language Development Disorders--complications Molecular Sequence Data Mutation--genetics Nervous System Diseases--complications