Publications
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Filters: Keyword is Male and Author is Timms, K M [Clear All Filters]
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum Mutat. 1998 ;11(2):121-6.
. The genomic organization of Isopeptidase T-3 (ISOT-3), a new member of the ubiquitin specific protease family (UBP). Gene. 1998 ;217(1-2):101-6.
. Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. J Med Genet. 1998 ;35(8):646-9.
. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.
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