Associated Papers
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
Caridi G et al.
International Journal of Molecular Sciences, 2022
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.
Caridi G et al.
European Journal of Medical Genetics, 2019
Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia.
Minchiotti L et al.
Frontiers in Genetics, 2019
Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene.
Caridi G et al.
Annals of Laboratory Medicine, 2018
A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant.
Caridi G et al.
Annals of Clinical Biochemistry, 2016
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family.
Caridi G et al.
Biochemia Medica, 2016
Congenital analbuminaemia diagnosed in adulthood in an Australian family.
Berglund LJ et al.
Pathology, 2015
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.
Caridi G et al.
Biochemia Medica, 2014
Congenital analbuminaemia: molecular defects and biochemical and clinical aspects.
Minchiotti L et al.
Biochimica Et Biophysica Acta, 2013
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.
Caridi G et al.
European Journal of Clinical Investigation, 2013
A novel two bases deletion in the albumin gene causes analbuminaemia in a young Turkish man.
Caridi G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
A novel splicing mutation causes analbuminemia in a Portuguese boy.
Caridi G et al.
Molecular Genetics and Metabolism, 2012
Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene.
Dagnino M et al.
International Journal of Molecular Sciences, 2011
A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman.
Dagnino M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient.
Dagnino M et al.
European Journal of Clinical Investigation, 2010
Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge.
Becker-Cohen R et al.
Pediatric Nephrology (berlin, Germany), 2009
Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.
Minchiotti L et al.
Human Mutation, 2008