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  • Title: Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification.
    Author: Davis RL, Peters T, Brennan SO.
    Journal: Clin Biochem; 2008 Dec; 41(18):1482-5. PubMed ID: 18801349.
    Abstract:
    OBJECTIVES: To identify the molecular lesion in a patient with analbuminemia. DESIGN AND METHODS: DNA sequencing, genome-wide SNP microarray and synthetic peptide assays to investigate DNA and protein aberrations. RESULTS: A homozygous frameshift deletion in exon 12 of HSA is predicted to cause truncation of the albumin protein. A proalbumin-like sequence identified in the novel C-terminal sequence has the potential to be post-translationally modified. CONCLUSIONS: The truncated albumin molecule is potentially edited by proteolytic cleavage before it enters the circulation.
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