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Issue Date
Title
Author(s)
1997
Genomic structure and complete nucleotide sequence of the Batten Disease Gene, CLN3
Mitchison, H.
;
Munroe, P.
;
O'Rawe, A.
;
Taschner, P.
;
De Vos, N.
;
Kremmidiotis, G.
;
Lensink, I.
;
Munk, A.
;
D'Arigo, K.
;
Anderson, J.
;
Lerner, T.
;
Moyzis, R.
;
Callen, D.
;
Breuning, M.
;
Doggett, N.
;
Gardiner, R.
;
Mole, 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.
1998
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24
Phillips, H.
;
Scheffer, I.
;
Crossland, K.
;
Bhatia, K.
;
Fish, D.
;
Marsden, C.
;
Howell, S.
;
Stephenson, J.
;
Tolmie, J.
;
Plazzi, G.
;
Eeg-Olofsson, O.
;
Singh, R.
;
Lopes-Cendes, I.
;
Andermann, E.
;
Berkovic, S.
;
Mulley, J.
1997
High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome
Fang, Y.
;
Bain, S.
;
Haan, E.
;
Eyre, H.
;
MacDonald, M.
;
Wright, T.
;
Altherr, M.
;
Riess, O.
;
Sutherland, G.
;
Callen, D.
1996
Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)
Gedeon, A.
;
Turner, G.
;
Mulley, J.
1998
Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3
Centola, M.
;
Chen, X.
;
Sood, R.
;
Deng, Z.
;
Aksentijevich, I.
;
Blake, T.
;
Ricke, D.
;
Chen, X.
;
Wood, G.
;
Zaks, N.
;
Richards, N.
;
Krizman, D.
;
Mansfield, E.
;
Apostolou, S.
;
Liu, J.
;
Shafran, N.
;
Vedula, A.
;
Hamon, M.
;
Cercek, A.
;
Kahan, T.
;
et al.
1996
A novel mutation in Exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia
Donnelly, A.
;
Colley, A.
;
Crimmins, D.
;
Mulley, J.
1996
How many X-linked genes for non-specific mental retardation (MRX) are there?
Gedeon, A.
;
Donnelly, A.
;
Mulley, J.
;
Kerr, B.
;
Turner, G.
1998
Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
Wallace, R.
;
Wang, D.
;
Singh, R.
;
Scheffer, I.
;
George Jnr., A.
;
Phillips, H.
;
Saar, K.
;
Reis, A.
;
Johnson, E.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
1995
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome
Gedeon, A.
;
Wilson, M.
;
Colley, A.
;
Sillence, D.
;
Mulley, J.
Discover
Author
21
Mulley, J.
17
Callen, D.
10
Gedeon, A.
10
Sutherland, G.
7
Eyre, H.
6
Crawford, J.
6
Doggett, N.
6
Donnelly, A.
6
Whitmore, S.
5
Aksentijevich, I.
.
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Subject
28
Male
27
Female
26
Molecular Sequence Data
22
Chromosome Mapping
16
Chromosomes, Human, Pair 16
16
Pedigree
15
Amino Acid Sequence
15
Genetic Linkage
14
Base Sequence
14
X Chromosome
.
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Date issued
9
1999
19
1998
12
1997
10
1996
2
1995