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Results 1-7 of 7 (Search time: 0.007 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.
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
1997
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
Wicking, C.
;
Shanley, S.
;
Smyth, I.
;
Gillies, S.
;
Negus, K.
;
Graham, S.
;
Suthers, G.
;
Haites, N.
;
Edwards, M.
;
Wainwright, B.
;
Chenevix Trench, G.
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, 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.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
Discover
Author
3
Gecz, J.
2
Cooper, A.
2
et al.
2
Hopwood, J.
2
Wraith, J.
1
Anson, D.
1
Arrand, J.
1
Barthorpe, S.
1
Bellantuono, I.
1
Besley, G.
.
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Subject
5
Male
4
Base Sequence
4
Exons
4
Female
4
Mutation
4
Pedigree
3
RNA, Messenger
2
Amino Acid Sequence
2
Animals
2
Cells, Cultured
.
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Date issued
4
2000 - 2007
3
1996 - 1999