Article
H714Q mutation in Wilson disease is associated with late, neurological presentation.
Journal of medical genetics - 1 Jun 1995
Houwen R H, Juyn J, Hoogenraad T U, Ploos van Amstel J K, Berger R
Abstract excerpt
Wilson disease is an autosomal recessive copper storage disease resulting from an inability of the liver to excrete copper. Patients can present at a young age, generally with symptoms of liver copper intoxication, or later on, generally with neurological symptoms. The gene for Wilson disease has...
Topics
- Adenosine Triphosphatases
- Adolescent
- Adult
- Age of Onset
- Base Sequence
- Cation Transport Proteins
- Child
- Copper
- Copper-Transporting ATPases
- DNA Mutational Analysis
- Female
- Hepatolenticular Degeneration
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction