All Stories

  1. A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant

    Article • Annals of Clinical Biochemistry International Journal of Laboratory Medicine, September 2016, SAGE Publications

    Professor Lorenzo Minchiotti

  2. Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene

    Article • Biochemia Medica, January 2014, Croatian Society for Medical Biochemistry and Laboratory Medicine

    Professor Lorenzo Minchiotti

  3. A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

    Article • European Journal of Clinical Investigation, November 2012, Wiley

    Professor Lorenzo Minchiotti

  4. A novel splicing mutation causes analbuminemia in a Portuguese boy

    Article • Molecular Genetics and Metabolism, March 2012, Elsevier

    Professor Lorenzo Minchiotti

  5. A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2012, De Gruyter

    Professor Lorenzo Minchiotti

  6. Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene

    Article • International Journal of Molecular Sciences, October 2011, MDPI AG

    Professor Lorenzo Minchiotti

  7. A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman

    Article • Clinica Chimica Acta, November 2010, Elsevier

    Professor Lorenzo Minchiotti

  8. A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2009, De Gruyter

    Professor Lorenzo Minchiotti

  9. Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT)

    Article • Clinica Chimica Acta, October 2008, Elsevier

    Professor Lorenzo Minchiotti

  10. Analbuminemia Zonguldak: Case report and mutational analysis

    Article • Clinical Biochemistry, March 2008, Elsevier

    Professor Lorenzo Minchiotti

  11. Analbuminemia Produced by a Novel Splicing Mutation

    Article • Clinical Chemistry, June 2007, AACC

    Professor Lorenzo Minchiotti

  12. Analbuminemia in a Slovak Romany (gypsy) family: Case report and mutational analysis

    Article • Clinica Chimica Acta, March 2006, Elsevier

    Professor Lorenzo Minchiotti

  13. Analbuminemia in a Swiss family is caused by a C → T transition at nucleotide 4446 of the albumin gene

    Article • Clinical Biochemistry, September 2005, Elsevier

    Professor Lorenzo Minchiotti

  14. Novel Nonsense Mutation Causes Analbuminemia in a Moroccan Family

    Article • Clinical Chemistry, November 2004, AACC

    Professor Lorenzo Minchiotti

  15. Analbuminemia: three cases resulting from different point mutations in the albumin gene.

    Article • Proceedings of the National Academy of Sciences, September 1994, Proceedings of the National Academy of Sciences

    Professor Lorenzo Minchiotti

  16. A nucleotide insertion and frameshift cause analbuminemia in an Italian family.

    Article • Proceedings of the National Academy of Sciences, March 1994, Proceedings of the National Academy of Sciences

    Professor Lorenzo Minchiotti

  17. A new proalbumin variant: Albumin Jaffna (−1 Arg→Leu)

    Article • FEBS Letters, September 1989, Wiley

    Professor Lorenzo Minchiotti