Albumin Rugby Park: a truncated albumin variant caused by a G-->C splice-site mutation in intron 13.

No abstract is available for this paper.

• Publication year

  1992

• Venue

  Biochimica et Biophysica Acta

• Publication date

  1992-10-13

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/0925-4439(92)90033-JPMID 1390939
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A donor splice mutation and a single-base deletion produce two carboxyl-terminal variants of human serum albumin.

  1991cited by this paper
• Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.

  1990cited by this paper
• Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats

  1990cited by this paper
• Albumin Redhill (-1 Arg, 320 Ala----Thr): a glycoprotein variant of human serum albumin whose precursor has an aberrant signal peptidase cleavage site.

  1990cited by this paper
• Point substitutions in albumin genetic variants from Asia.

  1990cited by this paper
• Mutations in genetic variants of human serum albumin found in Italy.

  1990cited by this paper
• Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.

  1989cited by this paper
• The molecular defect in a COOH-terminal-modified and shortened mutant of human serum albumin.

  1989cited by this paper
• Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.

  1988cited by this paper
• Regulation of Rous sarcoma virus RNA splicing and stability

  1988cited by this paper
• Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency.

  1988cited by this paper
• Premature translation termination mediates triosephosphate isomerase mRNA degradation

  1988cited by this paper
• Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

  1988cited by this paper
• Drug-binding and other physicochemical properties of a large tryptic and a large peptic fragment of human serum albumin.

  1988cited by this paper
• Splicing of messenger RNA precursors.

  1987cited by this paper
• Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

  1987cited by this paper
• Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4.

  1986cited by this paper
• Structural characterization of a chain termination mutant of human serum albumin.

  1986cited by this paper
• Serum albumin.

  1985cited by this paper
• Circulating proalbumin associated with a variant proteinase inhibitor.

  1984cited by this paper
• Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

  1983cited by this paper
• The reactive site of alpha 1-antitrypsin is C-terminal, not N-terminal.

  1983cited by this paper
• Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit β-globin gene

  1983cited by this paper
• Reactive site of α1-antitrypsin is C-terminal, not N-terminal

  1983cited by this paper
• A single-base change at a splice site in a β0-thalassemic gene causes abnormal RNA splicing

  1982cited by this paper
• A catalogue of splice junction sequences.

  1982cited by this paper
• Construction of a yeast actin gene intron deletion mutant that is defective in splicing and leads to the accumulation of precursor RNA in transformed yeast cells.

  1982cited by this paper
• Synthesis of an unspliced cytoplasmic message by an adenovirus 5 deletion mutant

  1981cited by this paper
• Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

  1977cited by this paper
• Immunofixation. I. General principles and application to agarose gel electrophoresis.

  1976cited by this paper
• Structural origins of mammalian albumin.

  1976cited by this paper
• Complete amino acid sequence of human serum albumin

  1975cited by this paper

• Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects

  2022cites this paper
• An intact C-terminal end of albumin is required for its long half-life in humans

  2020cites this paper
• Acquired and congenital fast albumin bands; insights from electrospray TOF analysis of whole plasma into drug binding and albumin recycling.

  2016cites this paper
• Human serum albumin isoforms: genetic and molecular aspects and functional consequences.

  2013cites this paper
• A novel splicing mutation causes analbuminemia in a Portuguese boy.

  2012cites this paper
• Human serum albumin: from bench to bedside.

  2012cites this paper
• Effects of fatty acids on albumin-mediated cholesterol efflux from endothelial cells and on the growth of hamster pancreatic β-cells

  2010cites this paper
• Mutations and polymorphisms of the gene of the major human blood protein, serum albumin

  2008cites this paper
• A novel splicing mutation causes an undescribed type of analbuminemia.

  2002cites this paper
• A nucleotide insertion and frameshift cause albumin Kénitra, an extended and O-glycosylated mutant of human serum albumin with two additional disulfide bridges.

  2001cites this paper
• Three truncated forms of serum albumin associated with pancreatic pseudocyst.

  2000cites this paper
• Albumin banks peninsula: a new termination variant characterised by electrospray mass spectrometry.

  1999cites this paper
• Effect of genetic variation on the fatty acid-binding properties of human serum albumin and proalbumin.

  1997cites this paper
• Neutrophils convert tyrosyl residues in albumin to chlorotyrosine

  1996cites this paper
• Yeast aspartic protease 3 (Yap3) prefers substrates with basic residues in the P2, P1 and P2′ positions

  1996cites this paper
• Genetic variants of human serum albumin: molecular defects and biological stability.

  1995cites this paper
• A genetic variant of albumin (albumin Asola; Tyr140-->Cys) with no free -SH group but with an additional disulfide bridge.

  1995cites this paper
• Genetic variants of human serum albumin in Italy: point mutants and a carboxyl-terminal variant.

  1994cites this paper
• Protein and DNA sequence analysis of a 'private' genetic variant: albumin Ortonovo (Glu-505-->Lys).

  1993cites this paper
• Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177.

  1993cites this paper