Mutation R468W of the iduronate-2-sulfatase gene in mild hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

Paul L. Crotty; Stephen E. Braun; Rose Ann Anderson; Chester B Whitley

doi:10.1093/hmg/1.9.755

Mutation R468W of the iduronate-2-sulfatase gene in mild hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

Paul L. Crotty, Stephen E. Braun, Rose Ann Anderson, Chester B Whitley

Pediatrics - Genetics and Metabolism

Research output: Contribution to journal › Article › peer-review

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Original language	English (US)
Pages (from-to)	755-757
Number of pages	3
Journal	Human molecular genetics
Volume	1
Issue number	9
DOIs	https://doi.org/10.1093/hmg/1.9.755
State	Published - Dec 1992

Bibliographical note

Funding Information:
We are indebted to Dr. John J.Hopwood for the partial-length IDS cDNA reference plasmid pc2S15 and Dr. William Sly for the full-length human 0-glucuronidase cDNA reference plasmid pHUGP13. We thank Dr. Bill Kaemmerer for molecular modelling. This work was supported by grants from the National Institutes of Health (RO1DK39891), the Ronald McDonald Children's Charities, and the Daniel Molinaro Foundation.

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title = "Mutation R468W of the iduronate-2-sulfatase gene in mild hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression",

author = "Crotty, {Paul L.} and Braun, {Stephen E.} and Anderson, {Rose Ann} and Whitley, {Chester B}",

note = "Funding Information: We are indebted to Dr. John J.Hopwood for the partial-length IDS cDNA reference plasmid pc2S15 and Dr. William Sly for the full-length human 0-glucuronidase cDNA reference plasmid pHUGP13. We thank Dr. Bill Kaemmerer for molecular modelling. This work was supported by grants from the National Institutes of Health (RO1DK39891), the Ronald McDonald Children's Charities, and the Daniel Molinaro Foundation.",

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AU - Anderson, Rose Ann

AU - Whitley, Chester B

N1 - Funding Information: We are indebted to Dr. John J.Hopwood for the partial-length IDS cDNA reference plasmid pc2S15 and Dr. William Sly for the full-length human 0-glucuronidase cDNA reference plasmid pHUGP13. We thank Dr. Bill Kaemmerer for molecular modelling. This work was supported by grants from the National Institutes of Health (RO1DK39891), the Ronald McDonald Children's Charities, and the Daniel Molinaro Foundation.

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Mutation R468W of the iduronate-2-sulfatase gene in mild hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

Bibliographical note

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