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Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

DNA at the FMR-1 locus was analyzed by Southern blot using probe StB12.3 in an unusual fragile X family with six brothers, three of whom are affected with fragile X to varying degrees, two of whom are nonpenetrant carriers, and one of whom is unaffected. Fragile X chromosome studies, detailed physic...

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Autori principali: McConkie-Rosell, A, Lachiewicz, A M, Spiridigliozzi, G A, Tarleton, J, Schoenwald, S, Phelan, M C, Goonewardena, P, Ding, X, Brown, W T
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1993
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682375/
https://ncbi.nlm.nih.gov/pubmed/8213810
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