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A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia

British journal of biomedical science, 2021-07, Vol.78 (3), p.154-157

2021

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Congenital analbuminaemia diagnosed in adulthood in an Australian family

Pathology, 2015-08, Vol.47 (5), p.492-494

2015

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A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient

European journal of clinical investigation, 2010-03, Vol.40 (3), p.281-284

2010

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Analbuminemia: Three Cases Resulting from Different Point Mutations in the Albumin Gene

Proceedings of the National Academy of Sciences - PNAS, 1994-09, Vol.91 (20), p.9417-9421

1994

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A Nucleotide Insertion and Frameshift Cause Analbuminemia in an Italian Family

Proceedings of the National Academy of Sciences - PNAS, 1994-03, Vol.91 (6), p.2275-2279

1994

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Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene

International journal of molecular sciences, 2011-11, Vol.12 (11), p.7314-7322

2011

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Structure and Properties of the C-terminal Domain of Insulin-like Growth Factor-binding Protein-1 Isolated from Human Amniotic Fluid

The Journal of biological chemistry, 2005-08, Vol.280 (33), p.29812-29819

2005

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Genetic Variants of Human Serum Albumin in Italy: Point Mutants and a Carboxyl-Terminal Variant

Proceedings of the National Academy of Sciences - PNAS, 1994-07, Vol.91 (14), p.6476-6480

1994

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Structural and biochemical characterization of a new type of lectin isolated from carp eggs

Biochemical journal, 2003-12, Vol.376 (Pt 2), p.433-440

2003

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Human α-1-Microglobulin Is Covalently Bound to Kynurenine-derived Chromophores

The Journal of biological chemistry, 2004-12, Vol.279 (49), p.51033-51041

2004

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A Donor Splice Mutation and a Single-Base Deletion Produce Two Carboxyl- Terminal Variants of Human Serum Albumin

Proceedings of the National Academy of Sciences - PNAS, 1991-07, Vol.88 (14), p.5959-5963

1991

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Modified high-affinity binding of Ni2+, Ca2+ and Zn2+ to natural mutants of human serum albumin and proalbumin

Biochemical journal, 1994-07, Vol.301 (1), p.217-223

1994

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Mutations in Genetic Variants of Human Serum Albumin Found in Italy

Proceedings of the National Academy of Sciences - PNAS, 1990-11, Vol.87 (22), p.8721-8725

1990

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A new bisalbuminemia: bisalbuminemia of Kenitra

La Presse médicale (1983), 2000-06, Vol.29 (22), p.1224

2000

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Structural analysis and fatty acid-binding properties of two Croatian variants of human serum albumin

Clinica chimica acta, 2004-11, Vol.349 (1), p.105-112

2004

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

Clinica chimica acta, 2006-03, Vol.365 (1), p.188-193

2006

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Molecular Diagnosis of Analbuminemia: A Novel Mutation Identified in Two Amerindian and Two Turkish Families

Clinical chemistry (Baltimore, Md.), 2002-06, Vol.48 (6), p.844-849

2002

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The Molecular Defect in a COOH-terminal-modified and shOrtened Mutant of Human Serum Albumin

The Journal of biological chemistry, 1989-02, Vol.264 (6), p.3385-3389

1989

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Novel nonsense mutation causes analbuminemia in a Moroccan family

Clinical chemistry (Baltimore, Md.), 2005, Vol.51 (1), p.227-229

2005

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Structural characterization of a chain termination mutant of human serum albumin

The Journal of biological chemistry, 1986-03, Vol.261 (9), p.4283-4287

1986

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Binding and Relaxometric Properties of Heme Complexes with Cyanogen Bromide Fragments of Human Serum Albumin

Biophysical journal, 2002-10, Vol.83 (4), p.2248-2258

2002

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The primary structure of D-amino acid oxidase from pig kidney. II. Isolation and sequence of overlap peptides and the complete sequence

The Journal of biological chemistry, 1982-08, Vol.257 (15), p.8824-8834

1982

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Localization of the amino acid substitution site in a fast migrating variant of human serum albumin

FEBS letters, 1985-01, Vol.180 (1), p.85-88

1985

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

Clinical biochemistry, 2005-09, Vol.38 (9), p.819-823

2005

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The primary structure of D-amino acid oxidase from pig kidney. I. Isolation and sequence of the tryptic peptides

The Journal of biological chemistry, 1982-08, Vol.257 (15), p.8817-8823

1982

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A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia

Congenital analbuminaemia diagnosed in adulthood in an Australian family

A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient

Analbuminemia: Three Cases Resulting from Different Point Mutations in the Albumin Gene

A Nucleotide Insertion and Frameshift Cause Analbuminemia in an Italian Family

Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene

Structure and Properties of the C-terminal Domain of Insulin-like Growth Factor-binding Protein-1 Isolated from Human Amniotic Fluid

Genetic Variants of Human Serum Albumin in Italy: Point Mutants and a Carboxyl-Terminal Variant

Structural and biochemical characterization of a new type of lectin isolated from carp eggs

Human α-1-Microglobulin Is Covalently Bound to Kynurenine-derived Chromophores

A Donor Splice Mutation and a Single-Base Deletion Produce Two Carboxyl- Terminal Variants of Human Serum Albumin

Modified high-affinity binding of Ni2+, Ca2+ and Zn2+ to natural mutants of human serum albumin and proalbumin

Mutations in Genetic Variants of Human Serum Albumin Found in Italy

A new bisalbuminemia: bisalbuminemia of Kenitra

Structural analysis and fatty acid-binding properties of two Croatian variants of human serum albumin

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

Molecular Diagnosis of Analbuminemia: A Novel Mutation Identified in Two Amerindian and Two Turkish Families

The Molecular Defect in a COOH-terminal-modified and shOrtened Mutant of Human Serum Albumin

Novel nonsense mutation causes analbuminemia in a Moroccan family

Structural characterization of a chain termination mutant of human serum albumin

Binding and Relaxometric Properties of Heme Complexes with Cyanogen Bromide Fragments of Human Serum Albumin

The primary structure of D-amino acid oxidase from pig kidney. II. Isolation and sequence of overlap peptides and the complete sequence

Localization of the amino acid substitution site in a fast migrating variant of human serum albumin

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

The primary structure of D-amino acid oxidase from pig kidney. I. Isolation and sequence of the tryptic peptides

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