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Exact(22)
The TAS sequences vary among chromosome arms and between individuals within a population [48] and thus it is possible the effects of the mutations reported here are restricted to 2L, but we think this is unlikely.
The other six mutations reported here are novel.
Seizure suppression by gish loss-of-function mutations reported here is unusual in several respects.
Therefore, all mutations reported here may soon be proven to be useful for diagnostic testing.
Of the 4 points mutations reported here, 3 were transversions and 1 was a missense mutation.
The mutations reported here upon passage of B. mallei are indels at SSRs and other sites.
Similar(38)
The new mutation reported here should be added to the long list of pathogenic variations described in the PYGM gene.
Because the constellation of airflow obstruction and elevated serum ACE in African American individuals is one that should raise the possibility of sarcoidosis to pulmonologists, it is important to recognize that mutations of the ACE gene that are not associated with disease – including the novel W1197X mutation reported here – can also lead to substantial blood ACE elevation.
The T193I mutation reported here, may affect the three dimensional structure of the protein.
The functional consequences of the R878C Nav1.5 mutation reported here were then investigated by biophysical and modelling studies.
To our knowledge, the G-insertion mutation reported here is the first naturally occurring, clinically relevant mutation to significantly alter the localization of FMRP.
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