Article
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
Human mutation - 1 Nov 2014
Morrone Amelia, Caciotti Anna, Atwood Robert, Davidson Kathryn, Du Chaoyi, Francis-Lyon Patricia, Harmatz Paul, Mealiffe Matthew, Mooney Sean, Oron Tal Ronnen, Ryles April, Zawadzki Karl A, Miller Nicole
Abstract excerpt
Morquio A syndrome (mucopolysaccharidosis IVA) is an autosomal recessive disorder that results from deficient activity of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to alterations in the GALNS gene, which causes major skeletal and connective tissue abnormalities and effects on multiple organ systems. The GALNS alterations associated with Morquio A are numerous and heterogeneous, and new alterations...
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