Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

Uttarillia, A and Girisha, KM (2016) Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Clinical Genetics, 90 (12). pp. 496-508. ISSN 0009-9163

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Item Type: Article
Uncontrolled Keywords: Genotype; phenotype correlation; Hunter syndrome; Hurler syndrome; mucopolysaccharidoses; mucopolysaccharidosis type I; mucopolysaccharidosis type II; variant.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 28 Nov 2016 08:42
Last Modified: 28 Nov 2016 08:42
URI: http://eprints.manipal.edu/id/eprint/147622

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