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News / The University of Adelaide Libraries [1993-2001]
NEWSLINE
University of Adelaide Library News [1979-1993]
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Results 1-6 of 6 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1996
Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow
Fairbairn, L.
;
Lashford, L.
;
Spooncer, E.
;
McDermott, R.
;
Lebens, G.
;
Arrand, J.
;
Arrand, J.
;
Bellantuono, I.
;
Holt, R.
;
Hatton, C.
;
Cooper, A.
;
Besley, G.
;
Wraith, J.
;
Anson, D.
;
Hopwood, J.
;
Dexter, T.
1996
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
Litjens, T.
;
Brooks, D.
;
Peters, C.
;
Gibson, G.
;
Hopwood, J.
1996
Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome
Isbrandt, D.
;
Hopwood, J.
;
von Figura, K.
;
Peters, C.
2001
Glycosidase active site mutations in human a-L-iduronidase
Brooks, D.
;
Fabrega, S.
;
Hein, L.
;
Parkinson, E.
;
Durand, P.
;
Yogalingam, G.
;
Matte, U.
;
Giugliani, R.
;
Dasvarma, A.
;
Eslahpazire, J.
;
Henrissat, B.
;
Mornon, J.
;
Hopwood, J.
;
Lehn, P.
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
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
Brooks, D.
2
Peters, C.
2
Weber, B.
1
Anson, D.
1
Arrand, J.
1
Bellantuono, I.
1
Besley, G.
1
Cooper, A.
1
Dasvarma, A.
1
Dexter, T.
.
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Subject
2
Child, Preschool
2
CHO Cells
2
Cricetinae
2
Genotype
2
Heterozygote
2
Phenotype
2
Polymerase Chain Reaction
2
Recombinant Proteins
1
Acetylglucosaminidase
1
Adolescent
.
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