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■ Abbreviation / Long Form : IDUA / alpha-L-iduronidase gene

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Total Number of Papers: 10
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Abbreviation:   IDUA  (>> Co-occurring Abbreviation)
Long Form:   alpha-L-iduronidase gene
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 Long Form Variation
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No. Year Title Co-occurring Abbreviation
2019 Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1. GAGs, MPS1
2018 An Integrated Computational Framework to Assess the Mutational Landscape of alpha-L-Iduronidase IDUA Gene. nsSNPs
2014 Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells. 4,5-disubstituted, MPS I
2011 A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing. IDS, MPS
2007 [A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I]. ASO, MPS I, RFLP
2004 alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. ---
1998 Mobilization and transduction of peripheral blood progenitor cells in patients with mucopolysaccharidosis I. DHFR, MPS I
1993 Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. MPS I
1993 Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype. ---
10  1990 Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. ---