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Issue Date
Title
Author(s)
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
2004
Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy
Yogalingam, G.
;
Guo, X.
;
Muller, V.
;
Brooks, D.
;
Clements, P.
;
Kakkis, E.
;
Hopwood, J.
2003
Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype
Maxwell, M.
;
Bjorkman, J.
;
Nguyen, T.
;
Sharp, P.
;
Finnie, J.
;
Paterson, C.
;
Tonks, I.
;
Paton, B.
;
Kay, G.
;
Crane, D.
1998
Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity
Yogalingam, G.
;
Hopwood, J.
;
Crawley, A.
;
Anson, D.
1998
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies
Bunge, S.
;
Clements, P.
;
Byers, S.
;
Kleijer, W.
;
Brooks, D.
;
Hopwood, J.
2001
Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients
Perkins, K.
;
Muller, V.
;
Weber, B.
;
Hopwood, J.
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Author
4
Hopwood, J.
2
Brooks, D.
2
Clements, P.
2
Muller, V.
2
Yogalingam, G.
1
Anson, D.
1
Bjorkman, J.
1
Bunge, S.
1
Byers, S.
1
Crane, D.
.
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Subject
4
Humans
3
Animals
2
Base Sequence
2
Cell Line
2
CHO Cells
2
Cricetinae
2
Exons
2
Genotype
2
Glycosaminoglycans
2
Iduronidase
.
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Date issued
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2004
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2000
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1998