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...

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...

Summary The porphyrias arise from predominantly inherited catalytic deficiencies of specific enzymes in heme biosynthesis. All genes encoding these enzymes have been cloned and several mutations underlying the different types of porphyrias have been reported. Traditionally, the diagnosis of porphyria is made on...