Literature summary extracted from
Tomatsu, S.; Fukuda, S.; Cooper, A.; Wraith, J.E.; Yamagishi, A.; Kato, Z.; Yamada, N.; Isogai, K.; Sukegawa, K.; Suzuki, Y.; Shimozawa, N.; Kondo, N.; Orii, T.
Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease (1998), Hum. Mutat., Suppl. 1, S42-S46.
Protein Variants
EC Number |
Protein Variants |
Comment |
Organism |
---|
3.1.6.4 |
additional information |
polymorphism within the GALNS gene, I113F is a missense mutation |
Homo sapiens |
Organism
EC Number |
Organism |
UniProt |
Comment |
Textmining |
---|
3.1.6.4 |
Homo sapiens |
- |
- |
- |