Ontology highlight
ABSTRACT:
SUBMITTER: Morrone A
PROVIDER: S-EPMC4238747 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Morrone Amelia A Caciotti Anna A Atwood Robert R Davidson Kathryn K Du Chaoyi C Francis-Lyon Patricia P Harmatz Paul P Mealiffe Matthew M Mooney Sean S Oron Tal Ronnen TR Ryles April A Zawadzki Karl A KA Miller Nicole N
Human mutation 20140917 11
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 are continuously identified. To aid detection and interpretation of GALNS alteration ...[more]