Associated Papers
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
Caridi G et al.
International Journal of Molecular Sciences, 2022
Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.
Vilela J et al.
Frontiers in Molecular Neuroscience, 2022
Recurrent Hypoglycemia in a Case of Congenital Analbuminemia.
Litzel M et al.
Case Reports in Endocrinology, 2020
Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia.
Minchiotti L et al.
Frontiers in Genetics, 2019
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation.
Holmberg C et al.
Pediatric Nephrology (berlin, Germany), 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 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
Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT).
Campagnoli M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.
Minchiotti L et al.
Human Mutation, 2008