Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.

Virtually all mutations causing Hunter syndrome (mucopolysaccharidosis type II) are expected to be new mutations. Therefore, as a means of molecular diagnosis, we developed a rapid method to sequence the entire iduronate-2-sulfatase (IDS) coding region. PCR amplicons representing the IDS cDNA were s...

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Detalhes bibliográficos
Main Authors: Jonsson, J J, Aronovich, E L, Braun, S E, Whitley, C B
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801163/
https://ncbi.nlm.nih.gov/pubmed/7887413
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