title: Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.
authors: Prajnya
authors: P
authors: Ranganath
authors: Vishakha
authors: V
authors: Sharma
authors: Sumita
authors: S
authors: Danda
authors: Madhusudan R
authors: MR
authors: Nandineni
authors: Ashwin B
authors: AB
authors: Dalal
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002855:Chromatography, Thin Layer; D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D008969:Molecular Sequence Data; D009081:Mucolipidoses / Q000201:enzymology* / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D009439:Neuraminidase / Q000172:deficiency / Q000235:genetics*; D009844:Oligosaccharides / Q000652:urine; D017422:Sequence Analysis, DNA
chemical_list: D009844:Oligosaccharides; C486385:NEU1 protein, human; D009439:Neuraminidase
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