Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

St-Louis, M

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. [electronic resource] - Human molecular genetics Jan 1994 - 69-72 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0964-6906

10.1093/hmg/3.1.69 doi


Amino Acid Metabolism, Inborn Errors--classification
Amino Acid Sequence
Base Sequence
Child, Preschool
DNA Primers
Exons
Finland
Humans
Hydrolases--deficiency
Infant
Liver--enzymology
Molecular Sequence Data
Point Mutation
Polymerase Chain Reaction
Tyrosine--blood