Improving the laboratory diagnosis of m-like variants related to alpha1-antitrypsin deficiency

HIGHLIGHTS

  • who: Valentina Barzon et al. from the Improving the Laboratory Diagnosis of, like Variants Related and Therapeutics, University of Pavia, Pavia, Italy have published the paper: Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency, in the Journal: (JOURNAL)
  • what: To avoid their misdiagnosis this study defines and validates effective methods for the detection of two pathogenic M-like variants and Comparison of protein phenotypes using isoelectric focusing of samples that presented the variant as revealed by exons 5 sequencing identified a particular electrophoretic pattern amenable to the protein. This value . . .

     

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