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Results 1-10 of 15 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
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.
1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Colley, A.
;
Jamieson, R.
;
Thompson, E.
;
Rogers, J.
;
Sillence, D.
;
Tiller, G.
;
Mulley, J.
;
Gecz, J.
1998
Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2y: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.
Schollen, E.
;
Pardon, E.
;
Heykants, L.
;
Renard, J.P.
;
Doggett, N.
;
Callen, D.
;
Cassiman, J.J.
;
Matthijs, G.
1996
Characterization of the dead ringer Gene Identifies a Novel, Highly Conserved Family of Sequence-Specific DNA-Binding Proteins
Gregory, S.
;
Kortschak, R.
;
Kalionis, B.
;
Saint, R.
1999
Isolation and characterisation of a cDNA encoding a Zona Pellucida Protein (ZPB) from the marsupial Trichosurus vulpecula (Brushtail Possum)
Haines, B.
;
Rathjen, P.
;
Hope, R.
;
Whyatt, L.
;
Holland, M.
;
Breed, W.
1999
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
Gecz, J.
;
Baker, E.
;
Donnelly, A.
;
Ming, J.
;
McDonald-McGinn, D.
;
Spinner, N.
;
Zackai, E.
;
Sutherland, G.
;
Mulley, J.
1999
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
Friend, K.
;
Crimmins, D.
;
Phan, T.
;
Sue, C.
;
Colley, A.
;
Fung, V.
;
Morris, J.
;
Sutherland, G.
;
Richards, R.
1997
Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever
Aksentijevich, I.
;
Centola, M.
;
Deng, Z.
;
Sood, R.
;
Balow, J.
;
Wood, G.
;
Zaks, N.
;
Mansfield, E.
;
Chen, X.
;
Eisenberg, S.
;
Vedula, A.
;
Shafran, N.
;
Raben, N.
;
Pras, E.
;
Pras, M.
;
Kastner, D.
;
Blake, T.
;
Baxevanis, A.
;
Robbins, C.
;
Krizman, D.
;
et al.
1999
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
McDermott, M.
;
Aksentijevich, I.
;
Galon, J.
;
McDermott, E.
;
Ogunkolade, B.
;
Centola, M.
;
Mansfield, E.
;
Gadina, M.
;
Karenko, L.
;
Petterson, T.
;
McCarthy, J.
;
Frucht, D.
;
Aringer, M.
;
Torosyan, Y.
;
Teppo, A.M.
;
Wilson, M.
;
Karaarslan, H.
;
Wan, Y.
;
Todd, I.
;
Wood, G.
;
et al.
Discover
Author
5
Mulley, J.
5
Sutherland, G.
4
Gecz, J.
3
Aksentijevich, I.
3
Centola, M.
3
et al.
3
Gedeon, A.
3
Mansfield, E.
3
Wood, G.
2
Blake, T.
.
next >
Subject
9
Sequence Homology, Amino Acid
8
Male
7
Base Sequence
7
Female
6
Pedigree
5
Animals
5
Cloning, Molecular
5
DNA, Complementary
4
DNA Mutational Analysis
4
Gene Expression
.
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Date issued
5
1999
5
1998
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1997
3
1996