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Results 1-10 of 18 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
2004
Nxf and Fbxo33: novel seizure-responsive genes in mice
Flood, W.
;
Moyer, R.
;
Tsykin, A.
;
Sutherland, G.
;
Koblar, S.
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.
1999
The Batten disease gene product (CLN3p) is a Golgi integral membrane protein
Kremmidiotis, G.
;
Lensink, I.
;
Bilton, R.
;
Woollatt, E.
;
Chataway, T.
;
Sutherland, G.
;
Callen, D.
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
10
Sutherland, G.
5
Eyre, H.
5
Hopwood, J.
4
Baker, E.
4
Callen, D.
3
Brooks, D.
3
Litjens, T.
2
Akkari, P.
2
Anson, D.
2
Kozman, H.
.
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Subject
15
Molecular Sequence Data
14
Humans
10
Chromosome Mapping
9
Polymerase Chain Reaction
8
Amino Acid Sequence
8
Mice
7
In Situ Hybridization, Fluorescence
6
Cricetinae
6
Male
5
CHO Cells
.
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Date issued
2
2004
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2001
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1999
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1998
3
1996
8
1995