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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1992 | 1 |
1993 | 2 |
1998 | 1 |
2024 | 0 |
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Page 1
Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
Hum Mol Genet. 1992 Dec;1(9):755-7. doi: 10.1093/hmg/1.9.755.
Hum Mol Genet. 1992.
PMID: 1284597
No abstract available.
Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
Whitley CB, Anderson RA, Aronovich EL, Crotty PL, Anyane-Yeboa K, Russo D, Warburton D.
Whitley CB, et al.
Hum Mutat. 1993;2(3):235-7. doi: 10.1002/humu.1380020313.
Hum Mutat. 1993.
PMID: 8364592
No abstract available.
Item in Clipboard
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
Isogai K, Sukegawa K, Tomatsu S, Fukao T, Song XQ, Yamada Y, Fukuda S, Orii T, Kondo N.
Isogai K, et al.
J Inherit Metab Dis. 1998 Feb;21(1):60-70. doi: 10.1023/a:1005363414792.
J Inherit Metab Dis. 1998.
PMID: 9501270
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Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A.
Hopwood JJ, et al.
Hum Mutat. 1993;2(6):435-42. doi: 10.1002/humu.1380020603.
Hum Mutat. 1993.
PMID: 8111411
Review.
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