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family mutation chromosome deletion sequence protein region marker chorea thyroid individual analysis genetic genomic disorder patient 200 control chromosomes factor slc 11a disease genet result chromosome 14 q chromosome 14 nature family uk 1 basal transcription function domain family members development basal ganglia primer brain position department member family nl 1 movement 11. thyroid transcription factor study allele families nl 1 g 713t 1.2 mb neuron control genomic deletion pcr products c 727a university r 243s ganglia onset database cycle transcript product 2.1 homeodomain codon huntington genbank choreic movements abnormality /or transferrin saturation intracellular iron levels g 303fsx 1.2 exon 3_ b binding thyroid dysfunction figure nature genet breedveld symptom evidence str markers
2 Most Recent Publications
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Mutations in TITF-1 are associated with benign hereditary chorea
(Article)
Breedveld, G.J. Guala, A. Joosse, M. MacDonald, M.E. Krude, H. GrĂ¼ters, A. Dongen, J.W.F. van Danesino, C. Heutink, P. Oostra, B.A. Percy, A.K. Dure, L.S. Harper, P. Arts, W.F.M. Lazarou, L.P. Linde, H. van der Vries, B.B.A. de |
2002-01-01
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A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis
(Article)
Njajou, O.T. Vaessen, N. Dongen, J.W.F. van Heutink, P. Joosse, M. Berghuis, B. Breuning, M.H. Snijders, P.J.L.M. Rutten, W.P.F. Sandkuijl, L.A. Oostra, B.A. Duijn, C.M. van |
2001-07-20
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