A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1...

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Autores principales: Terrett, J. A., Newbury-Ecob, R., Smith, N. M., Li, Q. Y., Garrett, C., Cox, P., Bonnet, D., Lyonnet, S., Munnich, A., Buckler, A. J., Brook, J. D.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914871/
https://ncbi.nlm.nih.gov/pubmed/8940280
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