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A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus
Mucopolysaccharidosis type II (Hunter syndrome, MPS II) is an X-linked lysosomal storage disorder caused by the deficit of iduronate 2-sulfatase (IDS), an enzyme involved in the glycosaminoglycans (GAGs) degradation. We here report the case of a 9-year-old boy who was diagnosed with an extremely sev...
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| 發表在: | JIMD Rep |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Springer Berlin Heidelberg
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4241202/ https://ncbi.nlm.nih.gov/pubmed/25059704 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_317 |
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