Mutations of the iduronate-2-sulfatase (
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Winnie Schröder; Karin Wulff; Manfred Wehnert; Günter Seidlitz; Falko H. Herrman
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Article
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1994
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John Wiley and Sons
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English
⚖ 351 KB
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Communicated by Jurgen Horsr Genomic DNA and cDNA from fibroblasts from nine unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency showing variable clinical manifestation were screened for point mutations and small structural aberrations. Direct sequencing revealed a splice