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scopus: 7004410630

Guala, A.

(Andrea Guala)


family mutation deletion chromosome teeth chorea sequence protein oligodontia marker thyroid region patient agenesi genomic genet 200 control chromosomes factor disorder analysis development genetic chromosome 14 q study chromosome 14 movement family uk 1 member transcription basal function disease basal ganglia 9 mutations result individual missense missense mutations primer 9 gene abnormality breedveld thyroid transcription factor 11. family nl 1 allele families nl 1 position blackwell publishing ltd g 713t 1.2 mb neuron al .10 novel novel mutation genomic deletion pcr products c 727a university molar r 243s ganglia onset database cycle transcript product author 2.1 genbank codon huntington homeodomain domain family members teeth agenesis choreic movements tooth g 303fsx department




2 Most Recent Publications

Deletion of PAX9 and oligodontia: A third family and review of the literature (Article)
Guala, A. Falco, V. Breedveld, G.J. Filippi, P. de Danesino, C.
2008-11-01
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