Publications
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Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.
. DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum Mutat. 1998 ;11(2):121-6.
. Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. J Med Genet. 1998 ;35(8):646-9.
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