Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

In this study, we have characterized a CGG repeat at the FMR-1 locus in more than 100 families (more than 500 individuals) presenting for fragile X testing and in 247 individuals from the general population. Both Southern blot and PCR-based assays were evaluated for their ability to detect premutati...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Snow, K, Doud, L K, Hagerman, R, Pergolizzi, R G, Erster, S H, Thibodeau, S N
פורמט: Artigo
שפה:Inglês
יצא לאור: 1993
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682501/
https://ncbi.nlm.nih.gov/pubmed/7902673
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