Article
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
American journal of human genetics - 1 Jun 1995
Sebastio G, Sperandeo M P, Panico M, de Franchis R, Kraus J P, Andria G
Abstract excerpt
Four new mutations in the cystathionine beta-synthase (CBS) gene have been identified in Italian patients with homocystinuria. The first mutation is a G-to-A transition at base 374 in exon 3, causing an arginine-to-glutamic acid substitution at position 125 of the protein (R125Q). This mutation h...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Cloning, Molecular
- Cystathionine beta-Synthase
- Female
- Genetic Testing
- Homocystinuria
- Humans
- Infant
- Italy
- Male
- Molecular Sequence Data
- Mutagenesis, Insertional
- Mutation