Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism

Maroteaux–Lamy syndrome is an autosomal-recessive disorder due to the deficit of the lysosomal enzyme, arylsulfatase B (ARSB). Among the numerous genomic lesions reported till now, the sequence variant, c.1151G>A (p.S384N), has been associated with a severe phenotype in more than 10% of the patie...

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Détails bibliographiques
Auteurs principaux: Zanetti, Alessandra, Ferraresi, Elena, Picci, Luigi, Filocamo, Mirella, Parini, Rossella, Rosano, Camillo, Tomanin, Rosella, Scarpa, Maurizio
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2009
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986599/
https://ncbi.nlm.nih.gov/pubmed/19259130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.19
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