Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin
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DOI: 10.3390/ijms23052624
Abstract: BMD is characterized by a marked heterogeneity of gene mutations resulting in many abnormal dystrophin proteins with different expression and residual functions. The smaller dystrophin molecules lacking a portion around exon 48 of the rod… read more here.
Keywords: bmd; lacking portion; rod domain;