A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome

A gene designated “FMR-1” has been isolated at the fragile-X locus. One exon of this gene is carried on a 5.1-kb EcoRI fragment that exhibits length variation in fragile-X patients because of amplification of or insertion into a CGG-repeat sequence. This repeat probably represents the fragile site....

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Detalhes bibliográficos
Principais autores: Wöhrle, Doris, Kotzot, Dieter, Hirst, Mark C., Manca, Antonella, Korn, Bernhard, Schmidt, Angela, Barbi, Gotthold, Rott, Hans-Dieter, Poustka, Annemarie, Davies, Kay E., Steinbach, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682683/
https://ncbi.nlm.nih.gov/pubmed/1642231
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