Mucopolysaccharidosis Type IVA (Morquio Syndrome A)
OMIM:253000Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | GALNS |
|---|---|
| Reference transcript | NM_000512.4 |
| DNA Change | c.901G>T |
| A.A. Change | p.Gly301Cys |
| Exon/Intron | exon 9 |
| Mutation Type | substitution |
| Reference | Tomatsu S, Nishioka T, Montano AM, Gutierrez MA, Pena OS, Orii KO, Sly WS, Yamaguchi S, Orii T, Paschke E, Kircher SG, Noguchi A.Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. J Med Genet. 2004 Jul;41(7):e98. |