Indeed, large deletions of this domain in dystrophin result in only a very mild phenotype.

The largest deletion seen on a living human is over 5 Mb.

Thus, most but not all large deletions and duplications are detected by this test [ 9 10 ] .

Finally, there is one large deletion that removes much of the carboxy-terminus of the channel.

In each patient, no large deletion or duplication was detected using the currently used primers.

The reconstructed events underlying the loss of individual repair genes include many large deletions, encompassing many genes (Table 1).

However, none of the characterized npr1 mutants have a large deletion [ 15 16 ] .

XLI can also occur in the context of larger deletions causing contiguous gene syndromes.

Point mutations are less likely than large deletions to cause substantial rearrangements in the ternary structure of the protein.

They have discovered, however, that a larger deletion tends to result in more severe mental retardation and developmental delays in people with cri-du-chat syndrome.