Article
Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
Human genetics - 1 Dec 1995
Gathof B S, Sommer M, Podskarbi T, Reichardt J, Braun A, Gresser U, Shin Y S
Abstract excerpt
Classical galactosemia, which is caused by deficiency of galactose-1-phosphate uridyltransferase, is characterized by acute problems of hepatocellular dysfunction, sepsis, cataracts and failure to thrive. Galactose limitation reverses these symptoms immediately; however, the long-term complicatio...
Topics
- Adult
- Base Sequence
- Child
- Codon
- DNA
- DNA Primers
- Exons
- Galactosemias
- Gene Frequency
- Genetic Carrier Screening
- Humans
- Male
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Restriction Mapping