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Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

โœ Scribed by Tabolacci, Elisabetta; Moscato, Umberto; Zalfa, Francesca; Bagni, Claudia; Chiurazzi, Pietro; Neri, Giovanni


Book ID
109847754
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
420 KB
Volume
16
Category
Article
ISSN
1018-4813

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Segregation of the fragile X mutation fr
โœ Kambouris, Marios; Snow, Karen; Thibodeau, Stephen; Bluhm, Denise; Green, Michae ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 469 KB ๐Ÿ‘ 1 views

Fragile X syndrome is associated with an unstable CGG-repeat in the FMR-1 gene. There are few reports of affected males transmitting the FMR-1 gene to offspring. We report on a family in which the propositus and his twin sister each had a full mutation with abnormal methylation. Their mother had an