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Matera, I.

( I. Matera)


kiaa 1279 patient family protein mutation marker genet disease syndrome number moroccan family hirschsprung disease expression hirschsprung accession genetic region sequence patient vi -10 score feature genomic dna homozygosity product genome cause retardation mapping 10 q 21.3-q figure zfhx 1b gene nonsense mutations candidate region system genetics web site kiaa 1279 expression recessive kiaa 1279 probe homozygosity mapping goldberg-shprintzen syndrome microcephaly moroccan department barth polymicrogyria function encoding hurst version genomic migration disorder report autosomal adult acid level cortex database center system development blood leukocytes development recombination events hofstra r 90x protein database 11 markers defect motif control browser tpr motifs disruption cgr 170 table codon software e 84x pcr products -10




1 Most Recent Publications

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems (Article)
Brooks, A.S. Breedveld, G.J. Meijers, C. Coo, R.F. de Oostra, B.A. Matera, I. Bertoli Avella, A.M. Burzynski, G.M. Graaff, E. de Tibboel, D. Osinga, J. Boven, L.G. Hurst, J.A. Willems, P.J. Hofstra, R.M. Mancini, G.M.S. Lequin, M.H.
2005-01-01