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Issue Date
Title
Author(s)
1997
Mutations among Italian mucopolysaccharidosis Type I patients
Gatti, R.
;
Di Natale, P.
;
Villani, G.
;
Filocamo, M.
;
Muller, V.
;
Guo, X.H.
;
Nelson, P.
;
Scott, H.
;
Hopwood, J.
1995
The molecular genetics of mucopolysaccharidosis type I : Diagnostic, clinical and biological implications
Scott, H.
;
Bunge, S.
;
Gal, A.
;
Clarke, L.
;
Morris, C.
;
Hopwood, J.
1999
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
Weber, B.
;
Guo, X.H.
;
Kleijer, W.
;
van de Kamp, J.
;
Poorthuis, B.
;
Hopwood, J.
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
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes
Crawley, A.
;
Yogalingam, G.
;
Muller, V.
;
Hopwood, J.
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.
1998
Molecular genetics of mucopolysaccharidosis type I - mutation analysis among the patients of the former Soviet Union
Voskoboeva, E.
;
Krasnopolskaya, X.
;
Mirenburg, T.
;
Weber, B.
;
Hopwood, J.
Discover
Author
2
Bunge, S.
2
Crawley, A.
2
Guo, X.H.
2
Kleijer, W.
2
Muller, V.
2
Scott, H.
2
Weber, B.
2
Yogalingam, G.
1
Anson, D.
1
Brooks, D.
.
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Subject
6
Humans
6
Phenotype
4
Iduronidase
4
Mucopolysaccharidosis I
3
Alleles
3
Heterozygote
3
Homozygote
2
Animals
2
Base Sequence
2
Cats
.
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Date issued
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1999
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1998
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1995