Molecular characterization of the marker chromosome associated with cat eye syndrome.

Cat eye syndrome (CES) is associated with a supernumerary bisatellited marker chromosome which is derived from duplicated regions of 22pter-22q11.2. In this study we have used dosage and RFLP analyses on 10 CES patients with marker chromosomes, by using probes to five loci mapped to 22q11.2. The seq...

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Autores principales: Mears, A. J., Duncan, A. M., Budarf, M. L., Emanuel, B. S., Sellinger, B., Siegel-Bartelt, J., Greenberg, C. R., McDermid, H. E.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1994
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918240/
https://ncbi.nlm.nih.gov/pubmed/7912885
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