Title : A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.

Pub. Date : 2014

PMID : 25059704






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 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. Glycosaminoglycans iduronate 2-sulfatase Homo sapiens