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The 22q11.2 Deletion Syndrome: A Gene Dosage Perspective

The 22q11.2 deletion/DiGeorge syndrome is a relatively common “genomic” disorder that results from heterozygous deletion of a 3-Mbp segment of chromosome 22. Of the more than 30 genes deleted in this syndrome, TBX1 is the only one that has been found to be mutated in some patients with a phenotype t...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awdur: Antonio Baldini
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Hindawi Limited 2006-01-01
Cyfres:The Scientific World Journal
Mynediad Ar-lein:http://dx.doi.org/10.1100/tsw.2006.317
Tagiau: Ychwanegu Tag
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