HIGHLIGHTS
- who: Marie-Cécile Gaillard from the (UNIVERSITY) have published the Article: Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report, in the Journal: (JOURNAL)
- what: The authors demonstrate that insertion of a TATAATA DNA motif within the exon 37 of SMCHD1 leads to the production of a mutant transcript detectable in the different tissues analyzed that is not specifically degraded by NMD.
- how: To search for other muscular gene variants which may contribute to the neuromuscular or FSHD phenotype the authors selected variants among a list of . . .
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