Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

Most cases of DiGeorge syndrome (DGS) and related abnormalities are associated with deletions within 22q11. Shortest region of deletion overlap (SRO) mapping previously identified a critical region (the DGCR) of 500 kb, which was presumed to contain a gene or genes of major effect in the haploinsuff...

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Autores principales: Sutherland, H. F., Wadey, R., McKie, J. M., Taylor, C., Atif, U., Johnstone, K. A., Halford, S., Kim, U. J., Goodship, J., Baldini, A., Scambler, P. J.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915101/
https://ncbi.nlm.nih.gov/pubmed/8659529
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