Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.
Details
Serval ID
serval:BIB_9CFD2291B284
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.
Journal
International Journal of Developmental Biology
ISSN
0214-6282 (Print)
ISSN-L
0214-6282
Publication state
Published
Issued date
2002
Volume
46
Number
1
Pages
89-96
Language
english
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 Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 21, Down Syndrome/genetics, Humans, Models, Genetic, Open Reading Frames, Polymorphism, Single Nucleotide
Pubmed
Web of science
Create date
24/01/2008 15:52
Last modification date
20/08/2019 15:03
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