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Phenotype-genotype correlation is difficult: the same mutation gives different phenotypes in both related and unrelated subjects.
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The H173A mutation gave different results in the two systems.
RESULTS Mutation screening revealed five distinct variants, one novel mutation (c.1346C>T; p.T449I) and four previously described, all located in exon 8. CONCLUSIONS Phenotype-genotype CONCLUSIONS Phenotype-genotypethe same mutation gives very different phenotypes.
It is well known in literature that often PAX8 gene mutations display variable expressivity, and even the same mutation gives rise to different clinical and biochemical phenotypes among members of the same family [ 16, 18, 19].
To investigate whether the NM_000093.3_c.925-2A>G mutation gave rise to different COL5A1 mRNA transcripts, we cloned the mRNA fragment comprising exons 4 to 8 (Figure 4A B).
Specificity for a particular mutation gives mechanistic information.
A mutation gives a person about a 60percentt chance of getting the disease.
This was ruled out by the data presented above showing that single mutations in different loop residues gave different effects.
To verify that the tarsal joint phenotype of fz mutations correlates with the strength of the ommatidial polarity defect, eyes from three mutations isolated in the screen that gave different strength tarsal phenotypes were sectioned.
The functional domains in all NSPs of the R protein give different phylogenetic results that suggest their different mutation rate under selective pressure.
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