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Mutations in DHDDS were shown to result in retinitis pigmentosa, ultimately leading to blindness, but the exact molecular mechanism by which the mutations affect DHDDS function remains elusive.
The mechanism by which the mutations cause the defects strongly suggests that the gene might also be involved in an adult-onset form of the disease.
Catalytic promiscuity of bacterial P450s, at least CYP102A1, seems to be intrinsic to P450s, although the mechanisms by which the mutations contribute to the new activity are difficult to rationalize.
Thus the molecular mechanisms by which the mutations cause fALS are currently unknown.
The mechanism by which the mutations become unlinked is unclear, especially since mycobacteria lack a mismatch repair system and are reported to be functionally mismatch repair defective[31].
However, the molecular mechanisms by which the mutations in these phosphatases induce such diseases remain largely unknown [ 19, 24].
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In familial ALS (FALS) with Cu/Zn superoxide dismutase (SOD1) mutations, the mechanisms by which the mutation in SOD1 leads to such a wide range of abnormalities remains elusive.
Thus, the mechanism by which the mutation generates a dominant active phenotype is currently unknown.
We characterize a mutant of HPr that provides relief from CCR and we discuss the possible mechanism by which the mutation leads to the observed growth characteristics.
A better understanding of the functions of CFHR5 and the mechanism by which the mutation causes the disease might suggest a role for the CFHR5 protein itself in the treatment of the disease.
With the exception of a frameshift mutation, 1258Ins TT) in exon 16, and a splice site mutation, in intron 21, the mechanisms by which the singleton mutations may cause or predispose to azoospermia are not clear.
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