Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA.
To study the quantitative relationship between the mutant N-acetylgalactosamine-6-sulfatase and the occurrence of mucopolysaccharidosis IVA, the human N-acetylgalactosamine-6-sulfatase with 117 mutations was quantified using the amino-acid distribution probability, then the mutations and clinical outcomes were coupled using the cross-impact analysis. The results show that a patient has 0.94 chance of being mucopolysaccharidosis IVA when a new mutation occurs in N-acetylgalactosamine-6-sulfatase.
Yan
Shaomin
S
Guangxi Academy of Sciences, Nanning, Guangxi Province, CN 530007, China.
Wu
Guang
G
D002811:Chondroitinsulfatases / Q000235:genetics / Q000378:metabolism; D003545:Cysteine / Q000235:genetics / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000201:enzymology / Q000235:genetics; D009154:Mutation
D002811:Chondroitinsulfatases; C102295:GALNS protein, human; D003545:Cysteine