Authors: Andrei Lucian Dragoi
This paper proposes an extension of Ataluren indications (with future deserved studies) in patients with Duchenne muscular dystrophy (DMD) caused by frameshift mutations of dystrophin (dys) gene (dys-gene; aka “DMD gene”) associated with abnormal premature stop codons at distance from the site of that given frameshift mutation (which mutation may affect the dys-gene starting from exons with high index more close to 79 than to 1): some strong arguments are presented in favor of this new extension proposal; a redefinition of nonsense mutation in both stricto sensu and lato sensu are also presented (emphasizing that frameshift mutations [FSMs] and nonsense mutations [NSMs] [in lato sensu] may come in association).
Comments: 5 Pages. http://dragoii.com/ALDragoi_A_possible_extension_of_Ataluren_indications_latest.pdf
[v1] 2019-11-23 04:30:18
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