Bisalbuminaemia due to novel mutation at a critical residue involved in recycling; Albumin Lyon (510His→Arg).

Abstract excerpt

OBJECTIVES: To define the underlying cause of bisalbuminaemia in an individual presenting with spontaneous venous thrombosis. METHOD: Plasma was examined by electrospray time-of-flight mass spectrometry (TOF MS) to assess albumin mutations and to quantify variant expression level. Tryptic peptide mapping and DNA sequencing were used to precisely define the mutation. RESULTS: Whole protein MS indicated a 19Da...

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