Associated Papers
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
Caridi G et al.
International Journal of Molecular Sciences, 2022
Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia.
Minchiotti L et al.
Frontiers in Genetics, 2019
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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
Detection of a novel splicing mutation causing analbuminemia in a Libyan family.
Bibi A et al.
Clinical Biochemistry, 2012
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
Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.
Minchiotti L et al.
Human Mutation, 2008
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