Article
Protective protein gene mutations in galactosialidosis.
The Journal of clinical investigation - 1 Jun 1993
Shimmoto M, Fukuhara Y, Itoh K, Oshima A, Sakuraba H, Suzuki Y
Abstract excerpt
Four different protective protein cDNA mutations, 146A-->G (Q49R), 193T-->C (W65R), 268-269TC-->CT (S90L), and 1184A-->G (Y395C), were identified in six Japanese galactosialidosis patients with various phenotypic manifestations, and another mutation, 746T-->A (Y249N), in a patient of French-Germa...
Topics
- Adolescent
- Adult
- Asian People
- Base Sequence
- Carboxypeptidases
- Cathepsin A
- Cells, Cultured
- Child
- Child, Preschool
- Cloning, Molecular
- Europe
- Female
- Genes, Recessive