Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

Abstract Background Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate. To achieve optimal clinical outcomes, early and proper treatment is essentia...

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Bibliographic Details
Main Authors: Li Ou, Michael J. Przybilla, Chester B. Whitley
Format: Article
Language:English
Published: BMC 2017-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
In silico
Single nucleotide polymorphism
Genotype/phenotype correlation
Mucopolysaccharidosis
Online Access:http://link.springer.com/article/10.1186/s13023-017-0678-1

Internet

http://link.springer.com/article/10.1186/s13023-017-0678-1

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