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