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Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population

✍ Scribed by Uttarilli, Anusha; Jain, S Jamal; Dalal, Ashwin B; Ranganath, Prajnya; Phadke, Shubha R; Kumar, Girisha; Sankar, Null; Patil, SJ; Kabra, Madhulika; Danda, Sumita

Book ID: 121565611
Publisher: BioMed Central
Year: 2014
Tongue: English
Weight: 64 KB
Volume: 7
Category: Article
ISSN: 1755-8166
DOI: 10.1186/1755-8166-7-S1-P60

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Mucopolysaccharidosis type I (MPS-I orMPS1) is an autosomal recessive condition characterized by a broad range of clinical symptoms. Molecular diagnosis of MPS-I is important for analyzing genotype-phenotype correlation and for selecting patients for innovative therapies. In this study we analyzed 3