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Chromosome 21: a small land of fascinating disorders with unknown pathophysiology

Deutsch, Samuel
Published in International Journal of Developmental Biology. 2002, vol. 46, no. 1, p. 89-96
Abstract In the year 2000 we celebrated the sequencing of the entire long arm of human chromosome 21. This achievement now provides unprecedented opportunities to understand the molecular pathophysiology of trisomy 21, elucidate the mechanisms of all monogenic disorders of chromosome 21, and discover genes and functional sequence variations that predispose to common complex disorders. All of that requires the functional analysis of gene products in model organisms, and the determination of the sequence variation of this chromosome.
Keywords Chromosome AberrationsChromosome MappingChromosomes, Human, Pair 21Down Syndrome/geneticsHumansModels, GeneticOpen Reading FramesPolymorphism, Single Nucleotide
PMID: 11902692
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Other version: http://www.ijdb.ehu.es/web/paper.php?doi=11902692
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ANTONARAKIS, Stylianos et al. Chromosome 21: a small land of fascinating disorders with unknown pathophysiology. In: International Journal of Developmental Biology, 2002, vol. 46, n° 1, p. 89-96. https://archive-ouverte.unige.ch/unige:8612

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Deposited on : 2010-07-12

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