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Issue Date
Title
Author(s)
1998
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.
Donnelly, A.
;
Haan, E.
;
Manson, J.
;
Mulley, J.
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.
Discover
Author
1
Ades, L.
1
Akkari, P.
1
Blumbergs, P.
1
Boundy, K.
1
Colley, A.
1
Craig, J.
1
Donggui, H.
1
Donnelly, A.
1
Dorosz, S.
1
Froiland, D.
.
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Subject
4
Humans
2
DNA Mutational Analysis
2
Molecular Sequence Data
2
Point Mutation
2
Polymerase Chain Reaction
1
Adult
1
Alleles
1
Amino Acid Sequence
1
Amino Acid Substitution
1
Arginine
.
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