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Hughes, A. E. et al. Mutation altering the miR-184 seed region causes familial keratoconus with cataract.
Bargmann, C.I., Hung, M.C. & Weinberg, R.A. Multiple independent activations of the neu oncogene by a point mutation altering the transmembrane domain of p185.
The KCNQ3 (A315T) mutation increased the sensitivity of the channels to external Ba2+ block by eight- to 28-fold, consistent with this mutation altering the structure of the selectivity filter.
As a consequence, the net results of a mutation altering the splicing pattern might derive from local changes in the concentration of splicing modulators.
This was likely caused by a mutation altering the RNA template subunit of telomerase, and this event is dated to ∼80 Mya [9].
For example, tauopathies can be caused by an exon 10 mutation altering the relative expression levels of two isoforms (3R and 4R) of the MAPT gene [ 7, 8].
Similar(52)
Bioinformatics analysis indicated that the mutation altered the hydrophobicity and secondary structure of the protein.
The L244A mutation altered the stereoselectivity of 2-ethylhexanoic acid production.
This study was performed to determine whether this mutation altered the effectiveness of the adjacent splice site.
The S228P mutation altered the distribution of charged residues and the representative areas are indicated by dotted circles.
A close inspection of the surface electrostatic potentials indicated that the S228P mutation altered the distribution of charged/polar residues around the subunit interface (Fig. 5C).
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