Molecular Testing of 163 Patients with Morquio A (Mucopolysaccharidosis IVA) Identifies 39 Novel GALNS Mutations

Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N-acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene. Patients who inherit t...

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Autors principals: Morrone, A, Tylee, K.L., Al-Sayed, M, Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Riberio, I., Wang, R.Y., Miller, N.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4203673/
https://ncbi.nlm.nih.gov/pubmed/24726177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.03.004
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