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Gastrointestinal: Peutz-Jeghers syndrome with a novel frameshift mutation in STK 11 gene observed by magnifying

K Kawasaki1, S Kawatoko1,2, T Nagasue1

  • 1Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Journal of Gastroenterology and Hepatology
|September 7, 2023
PubMed
Abstract

No abstract available in PubMed .

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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