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Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

✍ Scribed by Chester B. Whitley; Rose Ann Anderson; Elena L. Aronovich; Paul L. Crotty; Kwame Anyane-Yeboa; Donna Russo; Dorothy Warburton

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 259 KB
Volume: 2
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380020313

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