Genetic Testing

Gene Mutations Not Always Expressed as Complete Disease

Published in Gene Therapy Weekly, August 9th, 1999

Gene mutations tied to inherited diseases may cause only a portion of the expected disorder, according to scientists at the University of North Carolina at Chapel Hill (UNC-CH).

That such "minor mutations" can cause unexpected effects stems largely from recent findings in cystic fibrosis (CF).

Writing in the July 1999 issue of Clinical Chemistry, Dr. Lawrence M. Silverman, UNC-CH School of Medicine and Dr. Kenneth J. Friedman, a postdoctoral research associate, noted that mutations in CFTR - the CF gene - can cause several distinct conditions having clinical similarities to CF.

"And when we look at people with ICP and CBAVD, we...

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Source: Gene Therapy Weekly (1999-08-09)

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