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Mutations of the iduronate-2-sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome)

✍ Scribed by Ewa Popowska; Michaela Rathmann; Anna Tylki-Szymanska; Susanna Bunge; Cordula Steglich; Eberhard Schwinger; Andreas Gal

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 478 KB
Volume: 5
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380050114

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✦ Synopsis

Communicated by Francesco Giannelli

Mucopolysaccharidosis type I1 (MI'S 11) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase

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