Informace o publikaci
Analysis of dystrophin mRNA in patients with DMD,BMD and XLDC
| Autoři | |
|---|---|
| Rok publikování | 2001 |
| Druh | Článek ve sborníku |
| Konference | European Journal of Human Genetics |
| Fakulta / Pracoviště MU | |
| Citace | |
| Obor | Genetika a molekulární biologie |
| Klíčová slova | dystrophin; DMD; BMD; XLDC |
| Popis | Complete dystrophin mRNA sequence has been analyzed in 36 Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients.One patient with BMD phenotype was associated with nonsense mutation E1110X.In the case of the E1110X mutation an alternative splicing of dystrophin mRNA (3486-3640del) was detected in this patient,which included the E1110X mutation site (nucleotide 3536)and did not change the translation reading frame.Expression of the major dystrophin mRNA isoform (from the muscle-,brain- and Purkinje-promotors) has been analyzed in 15 patients with suspicion on X-linked dilated cardiomyopathy (XLDC). |
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