Analysis of the Fragile X Trinucleotide Repeat in Basques: Association of Premutation and Intermediate Sizes, Anchoring AGGs and Linked Microsatellites with Unstable Alleles

Fragile X Syndrome (FXS) is associated with an unstable CGG repeat sequence in the 5’ untranslated region in the first exon of the FMR1 gene which resides at chromosome position Xq27.3 and is coincident with the fragile site FRAXA. The CGG sequence is polymorphic with respect to size and purity of t...

Descripción completa

Detalles Bibliográficos
Autores principales: Arrieta, M.I, Ramírez, J.M, Télez, M, Flores, P, Criado, B, Barasoain, M, Huerta, I, González, A.J
Formato: Texto
Lenguaje:English
Publicado: Bentham Science Publishers Ltd. 2008
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2679647/
https://www.ncbi.nlm.nih.gov/pubmed/19440516
http://dx.doi.org/10.2174/138920208784340722

Ejemplares similares

Ejemplares similares