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Literature summary for 3.10.1.1 extracted from

  • Montfort, M.; Garrido, E.; Hopwood, J.J.; Grinberg, D.; Chabas, A.; Vilageliu, L.
    Expression and functional characterization of human mutant sulfamidase in insect cells (2004), Mol. Genet. Metab., 83, 246-251.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
heterologous expression, using a baculovirus system, of the cDNAs corresponding to eight out of 14 mutant alleles present in the patient group of 26 unrelated Spanish patients with mucopolysaccharidosis IIIA. Expression of the following alleles: p.S66W, p.R74H, p.Q85R, p.R206P, p.L386R, p.R433W, p.R433Q, and c.1079delC. Expression of wild-type and mutant sulfamidases in Sf9 insect cells Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Synonyms

Synonyms Comment Organism
SGSH
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Homo sapiens