Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.

We report on further cases of high functioning fragile X males showing decreased expression of FMR1 protein, absence of detectable methylation at the EagI site in the FMR1 gene promoter, and highly unusual patterns of fragile X mutations defined as smear of expansions extending from premutation to f...

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Hlavní autoři: Wöhrle, D, Salat, U, Gläser, D, Mücke, J, Meisel-Stosiek, M, Schindler, D, Vogel, W, Steinbach, P
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051212/
https://ncbi.nlm.nih.gov/pubmed/9507388
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