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Auteur Ishmukhametova A |
Documents disponibles écrits par cet auteur (3)
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Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ishmukhametova A ; Khau Van Kien P ; Thorel D ; Méchin D ; Vincent MC ; Humbertclaude V ; Tuffery-Giraud S ; Claustres M | 2011Spanning more than 2Mb on Xp21.1-p21.2, the DMD gene is the largest known with a complex mutational spectrum. Around 70% of the mutations are large deletions and duplications, the remaining being point mutations and small lesions. Most of the cu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ishmukhametova A ; KhauVan Kien P ; Thorel D ; Méchin D ; Vincent MC ; Humbertclaude V ; Tuffery-Giraud S ; Claustres M | 2011Background. Among the large rearrangements in the DMD gene, the predicted out-of-frame deletions and duplications of the exons 3 to 7 (del/dup3-7) present mainly twoparticular features in the widest DMD gene specific databases (www.dmd.nl: 150 d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Messaoud-Khelifi M ; Khau Van Kien P ; Thorel D ; Méchin D ; Ishmukhametova A ; Vincent MC ; Claustres M ; Tuffery-Giraud S | 2011While it is admitted that 74%-95% of multiexon genes in human undergo alternative splicing, the occurrence of aberrant pseudoexon (PE) inclusion in mature transcripts in normal and pathological conditions is far from being known. PEs are introni[...]