Article
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.
Human mutation - 1 Nov 2005
Bocciardi Renata, Giorda Roberto, Marigo Valeria, Zordan Paola, Montanaro Donatella, Gimelli Stefania, Seri Marco, Lerone Margherita, Ravazzolo Roberto, Gimelli Giorgio
Abstract excerpt
The molecular characterization of balanced chromosomal rearrangements has often been a powerful tool for the positional identification of genes associated with specific diseases. In some instances, these rearrangements may be associated with a variety of different phenotypes, and thus establishing a genotype-phenotype correlation may be a complex process. However, molecular characterization of the rearrangement...
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