Associated Papers
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
Caridi G et al.
International Journal of Molecular Sciences, 2022
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan DL et al.
European Journal of Human Genetics : Ejhg, 2021
34276053 (PubMed )
Supplement: 41431_2021_933_MOESM1_ESM.docx
Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.
Liu R et al.
Scientific Reports, 2017
28835676 (PubMed )
Supplement: 41598_2017_7012_MOESM1_ESM.doc
Human serum albumin isoforms: genetic and molecular aspects and functional consequences.
Kragh-Hansen U et al.
Biochimica Et Biophysica Acta, 2013
Albumin Benkovac (c.1175 A > G; p.Glu392Gly): a novel genetic variant of human serum albumin.
Caridi G et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2010
Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.
Minchiotti L et al.
Human Mutation, 2008
Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia.
Lai MI et al.
British Journal of Haematology, 2006
Mutational analysis of TraM correlates oligomerization and DNA binding with autoregulation and conjugative DNA transfer.
Lu J et al.
The Journal of Biological Chemistry, 2004
Structure-function analysis of the reactive site in the first Kunitz-type domain of human tissue factor pathway inhibitor-2.
Chand HS et al.
The Journal of Biological Chemistry, 2004
Inhibitory properties of human recombinant Arg24-->Gln type-2 tissue factor pathway inhibitor (R24Q TFPI-2).
Kamei S et al.
Thrombosis Research, 1999
Select a paper to view details