# A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human GALNS Gene Results in Severe Mucopolysaccharidosis Type IVA

**Authors:** Moeinadin Safavi, Aria Setoodeh, Mahdiieh Ghoddoosi

PMC · DOI: 10.30699/ijp.2024.2025376.3278 · Iranian Journal of Pathology · 2025-01-10

## Full-text entities

- **Genes:** GALNS (galactosamine (N-acetyl)-6-sulfatase) [NCBI Gene 2588] {aka GALNAC6S, GAS, GalN6S, MPS4A}
- **Diseases:** Mucopolysaccharidosis Type IVA (MESH:D009085)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c.965C>T, p.Ala322Val

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Source: https://tomesphere.com/paper/PMC11887636