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Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy disease) results from the deficient activity of the lysosomal enzyme, arylsulfatase B (ASB; N-acetylgalactosamine-4-sulfatase E.C.3.1.6.1). The enzymatic defect leads to the accumulation of the glycosaminoglycan, dermatan sulfate, primarily in co...

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Autors principals: Jin, W D, Jackson, C E, Desnick, R J, Schuchman, E H
Format: Artigo
Idioma:Inglês
Publicat: 1992
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682624/
https://ncbi.nlm.nih.gov/pubmed/1550123
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