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Results 1-10 of 11 (Search time: 0.002 seconds).
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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
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
Identification of the gene FMR2, associated with FRAXE mental retardation
Gecz, J.
;
Gedeon, A.
;
Sutherland, G.
;
Mulley, J.
1998
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Town, M.
;
Jean, G.
;
Cherqui, S.
;
Attard, M.
;
Forestier, L.
;
Whitmore, S.
;
Callen, D.
;
Gribouval, O.
;
Broyer, M.
;
Bates, G.
;
van't Hoff, W.
;
Antignac, C.
1998
Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders.
Hollway, G.
;
Mulley, J.
1999
Genomic structure and expression analysis of the spastic paraplegia gene, SPG7
Settasatian, C.
;
Whitmore, S.
;
Crawford, J.
;
Bilton, R.
;
Cleton-Jansen, A.M.
;
Sutherland, G.
;
Callen, D.
1997
The genome organisation of the Fanconi Anemia Group A (FAA) Gene
Ianzano, L.
;
d'Apolito, M.
;
Centra, M.
;
Savino, M.
;
Levran, O.
;
Auerbach, A.
;
Cleton-Jansen, A.M.
;
Doggett, N.
;
Pronk, J.
;
Tipping, A.
;
Gibson, R.
;
Mathew, C.
;
Whitmore, S.
;
Apostolou, S.
;
Callen, D.
;
Zelante, L.
;
Savoia, A.
1998
The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers Syndrome.
Kortschak, R.
;
Reimann, H.
;
Zimmer, M.
;
Eyre, H.
;
Saint, R.
;
Jenne, D.
Discover
Author
5
Callen, D.
4
Mulley, J.
4
Whitmore, S.
3
Cleton-Jansen, A.M.
3
Doggett, N.
2
Apostolou, S.
2
Auerbach, A.
2
Crawford, J.
2
d'Apolito, M.
2
Donnelly, A.
.
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Subject
11
Humans
8
Molecular Sequence Data
5
Cloning, Molecular
5
Female
5
Introns
5
Male
4
Base Sequence
4
DNA, Complementary
4
Sequence Analysis, DNA
4
Sequence Homology, Amino Acid
.
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Date issued
2
1999
5
1998
2
1997
2
1996