Title : Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Pub. Date : 2014 Jun

PMID : 24726177






3 Functional Relationships(s)
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Protein Name
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1 Patients who inherit two mutated GALNS gene alleles have a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing GAG accumulation within lysosomes and consequently pleiotropic disease. Glycosaminoglycans galactosamine (N-acetyl)-6-sulfatase Homo sapiens
2 Patients who inherit two mutated GALNS gene alleles have a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing GAG accumulation within lysosomes and consequently pleiotropic disease. Glycosaminoglycans galactosamine (N-acetyl)-6-sulfatase Homo sapiens
3 Patients who inherit two mutated GALNS gene alleles have a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing GAG accumulation within lysosomes and consequently pleiotropic disease. Glycosaminoglycans galactosamine (N-acetyl)-6-sulfatase Homo sapiens