TY  - GEN
AU  - St-Louis,M
AU  - Leclerc,B
AU  - Laine,J
AU  - Salo,M K
AU  - Holmberg,C
AU  - Tanguay,R M
TI  - Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I
SN  - 0964-6906
PY  - 1994///0523
KW  - Amino Acid Metabolism, Inborn Errors
KW  - classification
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Child, Preschool
KW  - DNA Primers
KW  - Exons
KW  - Finland
KW  - Humans
KW  - Hydrolases
KW  - deficiency
KW  - Infant
KW  - Liver
KW  - enzymology
KW  - Molecular Sequence Data
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Tyrosine
KW  - blood
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/3.1.69
ER  -