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

Research output: Contribution to journalArticlepeer-review

30 Scopus citations
Original languageEnglish (US)
Pages (from-to)755-757
Number of pages3
JournalHuman molecular genetics
Volume1
Issue number9
DOIs
StatePublished - 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.

Copyright:
Copyright 2010 Elsevier B.V., All rights reserved.

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