Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in...

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Publicat a:J Med Genet
Autors principals: Flynn, G A, Hirst, M C, Knight, S J, Macpherson, J N, Barber, J C, Flannery, A V, Davies, K E, Buckle, V J
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 1993
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016261/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8445629/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.2.97
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