Title: | A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B |
Journal : | Journal of medical genetics |
Authors: | Todorova A ; Halliger-Keller B ; Walter MC ; Dabauvalle MC ; Lochmuller H ; Müller CR |
Material Type: | Article |
Publication Date: | 2003 |
Size: | 40, 10, e115 (3 pages) |
Languages: | English |
Keywords : | autosomal dominant Emery-Dreifuss muscular dystrophy ; exon ; family ; family trees ; genetic deletions ; genotype-phenotype correlation ; Germany ; lamins ; LMNA gene ; messenger RNA ; nucleotide sequences ; primary structure of proteins ; RT-PCR ; splicing |