Nellis, Mary M

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