Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression. [electronic resource]
- Molecular genetics and metabolism
- 189-95 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7192
10.1016/s1096-7192(03)00144-6 doi
Child Cloning, Molecular DNA Mutational Analysis Fibroblasts--enzymology Genetic Testing Humans Infant Lymphocytes--enzymology Maple Syrup Urine Disease--enzymology Multienzyme Complexes--genetics Mutation--genetics Pedigree