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Results 1-10 of 23 (Search time: 0.002 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.
1995
Assignment of the human skeletal muscle a-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization
Eyre, H.
;
Akkari, P.
;
Wilton, S.
;
Callen, D.
;
Baker, E.
;
Laing, N.
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.
1995
Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation
Hunt, C.
;
Eyre, H.
;
Akkari, P.
;
Meredith, C.
;
Dorosz, S.
;
Wilton, S.
;
Callen, D.
;
Laing, N.
;
Baker, E.
1995
Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein
Brooks, D.
;
Robertson, D.
;
Bindloss, C.
;
Litjens, T.
;
Anson, D.
;
Peters, C.
;
Morris, C.
;
Hopwood, J.
1995
The CEPH consortium linkage map of human chromosome 16
Kozman, H.
;
Keith, T.
;
Donis-Keller, H.
;
White, R.
;
Weissenbach, J.
;
Sutherland, G.
1996
Feline mucopolysaccharidosis type VI - characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease
Yogalingam, G.
;
Litjens, T.
;
Bielicki, J.
;
Crawley, A.
;
Muller, V.
;
Anson, D.
;
Hopwood, J.
1998
Complex organisation of the 5'-end of the human glycine tRNA synthetase gene
Mudge, S.
;
Williams, J.
;
Eyre, H.
;
Sutherland, G.
;
Cowan, P.
;
Power, D.
2004
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
Weaving, L.
;
Christodoulou, J.
;
Williamson, S.
;
Friend, K.
;
McKenzie, O.
;
Archer, H.
;
Evans, J.
;
Clarke, A.
;
Pelka, G.
;
Tam, P.
;
Watson, C.
;
Lahooti, H.
;
Ellaway, C.
;
Bennetts, B.
;
Leonard, H.
;
Gecz, J.
Discover
Author
11
Sutherland, G.
6
Hopwood, J.
5
Eyre, H.
4
Baker, E.
4
Haan, E.
3
Akkari, P.
3
Anson, D.
3
Callen, D.
3
Laing, N.
3
Litjens, T.
.
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Subject
20
Humans
15
Animals
13
Chromosome Mapping
10
Polymerase Chain Reaction
9
Amino Acid Sequence
8
Male
7
In Situ Hybridization, Fluorescence
7
Mice
5
Cloning, Molecular
5
Cricetinae
.
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Date issued
1
2004
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2001
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1999
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1998
1
1997
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1996
12
1995