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Results 1-6 of 6 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2000
New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndrome
Cox, T.
;
Allen, L.
;
Cox, L.
;
Hopwood, B.
;
Goodwin, B.
;
Haan, E.
;
Suthers, G.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
1999
Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells
Hussey, N.
;
Donggui, H.
;
Froiland, D.
;
Hussey, D.
;
Haan, E.
;
Matthews, C.
;
Craig, J.
1995
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Laing, N.
;
Wilton, S.
;
Akkari, P.
;
Dorosz, S.
;
Boundy, K.
;
Kneebone, C.
;
Blumbergs, P.
;
White, S.
;
Watkins, H.
;
Love, D.
;
Haan, E.
2003
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
Davis, M.
;
Haan, E.
;
Jungbluth, H.
;
Sewry, C.
;
North, K.
;
Muntoni, F.
;
Kuntzer, T.
;
Lamont, P.
;
Bankier, A.
;
Tomlinson, P.
;
Sanchez, A.
;
Walsh, P.
;
Nagarajan, L.
;
Oley, C.
;
Colley, A.
;
Gedeon, A.
;
Quinlivan, R.
;
Dixon, J.
;
James, D.
;
Muller, C.
;
et al.
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
2
Ades, L.
2
Colley, A.
1
Akkari, P.
1
Allen, L.
1
Bankier, A.
1
Blumbergs, P.
1
Boundy, K.
1
Cleary, E.
1
Cox, L.
1
Cox, T.
.
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Subject
6
Humans
5
Male
4
Female
4
Molecular Sequence Data
3
DNA Mutational Analysis
3
Genetic Linkage
3
Pedigree
2
Amino Acid Sequence
2
Base Sequence
2
Child
.
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