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Issue Date
Title
Author(s)
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
1998
Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene
Gibson, M.
;
Ellis, S.
;
Ades, L.
;
Haan, E.
;
Cleary, E.
Discover
Author
1
Bartlett, S.
1
Clarke, L.
1
Cleary, E.
1
Cohen, M.
1
Colley, A.
1
Ellis, S.
1
et al.
1
Gaudenz, K.
1
Gibson, M.
1
Gripp, K.
.
next >
Subject
2
Adult
2
Exons
2
Female
2
Fibrillin-1
2
Fibrillins
2
Marfan Syndrome
2
Microfilament Proteins
2
Molecular Sequence Data
2
Point Mutation
1
Amino Acid Sequence
.
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Date issued
1
1998
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1997
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1996