TY  - JOUR
TI  - Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.
AU  - Antonarakis, Stylianos E
AU  - Lyle, Robert
AU  - Deutsch, Samuel
AU  - Reymond, Alexandre
T2  - The International Journal of Developmental Biology
AB  - 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.
PY  - 2002
VL  - 46
IS  - 1
SP  - 89
EP  - 96
J2  - Int. J. Dev. Biol.
LA  - en
SN  - 0214-6282
SN  - 1696-3547
UR  - https://ijdb.ehu.eus/article/11902692
Y2  - 2024/11/05/17:18:05
ER  -