Article
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
American journal of human genetics - 1 Mar 1995
Elsas L J, Langley S, Steele E, Evinger J, Fridovich-Keil J L, Brown A, Singh R, Fernhoff P, Hjelm L N, Dembure P P
Abstract excerpt
We describe a stratagem for identifying new mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. GALT enzyme activity and isoforms were defined in erythrocytes from probands and their first-degree relatives. If the biochemical phenotypes segregated in an autosomal recessive patt...
Topics
- Base Sequence
- DNA Mutational Analysis
- Galactosemias
- Genotype
- Humans
- Molecular Sequence Data
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- UTP-Hexose-1-Phosphate Uridylyltransferase