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Results 1-9 of 9 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1998
Identification of a common mutation (R245h) in Sanfilippo A patients from the Netherlands
Weber, B.
;
Vandekamp, J.
;
Kleijer, W.
;
Guo, X.H.
;
Blanch, L.
;
van Diggelen, O.
;
Wevers, R.
;
Poorthuis, B.
;
Hopwood, J.
1997
Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)
Bunge, S.
;
Ince, H.
;
Steglich, C.
;
Kleijer, W.
;
Beck, M.
;
Zaremba, J.
;
van Diggelen, O.
;
Weber, B.
;
Hopwood, J.
;
Gal, A.
1999
Expression and characterization of wild type and mutant recombinant human sulfamidase - Implications for Sanfilippo (mucopolysaccharidosis IIIA) syndrome
Perkins, K.
;
Byers, S.
;
Yogalingam, G.
;
Weber, B.
;
Hopwood, J.
1997
Novel Mutations in Sanfilippo A Syndrome : Implications For Enzyme Function
Weber, B.
;
Guo, X.H.
;
Wraith, J.
;
Cooper, A.
;
Kleijer, W.
;
Bunge, S.
;
Hopwood, J.
1996
Structure and sequence of the human sulphamidase gene
Karageorgos, L.
;
Guo, X.H.
;
Blanch, L.
;
Weber, B.
;
Anson, D.
;
Scott, H.
;
Hopwood, J.
1997
Molecular defects in Sanfilippo syndrome type A
Blanch, L.
;
Weber, B.
;
Guo, X.H.
;
Scott, H.
;
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.
1996
Cloning and Expression of the Gene Involved in Sanfilippo B Syndrome (Mucopolysaccharidosis III B)
Weber, B.
;
Blanch, L.
;
Clements, P.
;
Scott, H.
;
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
5
Guo, X.H.
4
Blanch, L.
4
Kleijer, W.
3
Scott, H.
2
Bunge, S.
2
Poorthuis, B.
2
van Diggelen, O.
1
Anson, D.
1
Beck, M.
1
Byers, S.
.
next >
Subject
9
Humans
7
Mucopolysaccharidosis III
6
Hydrolases
6
Mutation
4
Base Sequence
4
Gene Frequency
3
Alleles
3
DNA Primers
3
Genotype
3
Molecular Sequence Data
.
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Date issued
2
1999
2
1998
3
1997
2
1996