Article
Human beta-galactosidase gene mutations in morquio B disease.
American journal of human genetics - 1 Nov 1991
Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y
Abstract excerpt
Three different beta-galactosidase gene mutations--a 273Trp----Leu (mutation F) in both families, 482Arg----His (mutation G) in one family, and 509Trp----Cys (mutation H) in the other family--were identified in three patients with Morquio B disease who were from two unrelated families. Restrictio...
Topics
- Amino Acid Sequence
- Blotting, Northern
- Cloning, Molecular
- DNA Mutational Analysis
- Genotype
- Humans
- Molecular Sequence Data
- Mucopolysaccharidosis IV
- Mutation
- beta-Galactosidase