Words similar to lmna

Example sentences for: lmna

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In exon 5, a two bp (CT) deletion was detected in the LMNA gene (Figure 5).
Of note, mice with a null allele in lmna display a phenotype only in the homozygous state [ 22 ] . The mutation we now describe is predicted to generate a substantial protein fragment consisting of the first 37 KDa of lamin A/C.
However, it is clear that mutations in LMNA cause tissue-specific disease affecting various differentiated cells including cardiac and skeletal muscle, adipocytes and neurons.
A smaller number of LMNA mutations are frameshifting and are expected to create truncated lamin A and C. In at least one case, a nonsense mutation at amino acid position 6 was described [ 11 ] . This mutation is effectively a null allele and therefore, dominant mutations, at least in this case, would be expected to arise from haploinsufficiency of lamin A/C.
The majority of reported LMNA mutations are missense.