Title : Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

Pub. Date : 2018 Oct 11

PMID : 30305043






2 Functional Relationships(s)
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1 BACKGROUND: Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene. Chondroitin Sulfates galactosamine (N-acetyl)-6-sulfatase Homo sapiens
2 BACKGROUND: Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene. Chondroitin Sulfates galactosamine (N-acetyl)-6-sulfatase Homo sapiens