A nonsense mutation is a change in the polynucleotide sequence that results in the production of a protein chain terminating codon that prematurely stops protein synthesis during the process of translation. As a result of a nonsense mutation, instead...

In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and possibly a truncated, and often nonfunctional protein...

Rationale: Approximately 10% of patients who have a spontaneous pneumothorax have a positive family history. Objectives: We sought to identify DNA sequence variations that confer susceptibility to pneumothoraces. Methods: We collected 12 families that had at least 2 first-degree relatives with a spontaneous pneumothorax....

Analbuminemia (MIM 103600) is a rare, inherited condition characterized by mild symptoms, including low blood pressure, slight edema, and fatigue (1). In the majority of cases, the disorder is detected by electrophoretic screening of plasma proteins, which shows either the complete absence of or...