TY  - GEN
AU  - Nellis,Mary M
AU  - Kasinski,Andrea
AU  - Carlson,Martha
AU  - Allen,Richard
AU  - Schaefer,Anna Marie
AU  - Schwartz,Edward M
AU  - Danner,Dean J
TI  - Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression
SN  - 1096-7192
PY  - 2004///1116
KW  - Child
KW  - Cloning, Molecular
KW  - DNA Mutational Analysis
KW  - Fibroblasts
KW  - enzymology
KW  - Genetic Testing
KW  - Humans
KW  - Infant
KW  - Lymphocytes
KW  - Maple Syrup Urine Disease
KW  - Multienzyme Complexes
KW  - genetics
KW  - Mutation
KW  - Pedigree
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/s1096-7192(03)00144-6
ER  -