Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain

No abstract is available for this paper.

• Publication year

  2002

• Venue

  Journal of Medical Genetics

• Publication date

  2002-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.39.9.e56PMID 12205126PMCID PMC1735221
• 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.

• Molecular Cloning: A Laboratory Manual

  2001cited by this paper
• The Metabolic and Molecular Bases of Inherited Disease

  2001cited by this paper
• Expression, Purification, and Characterization of Natural Mutants of Human Aldolase B

  2000cited by this paper
• Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

  2000cited by this paper
• Disorders of Fructose Metabolism

  2000cited by this paper
• Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.

  2000cited by this paper
• Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications

  1999cited by this paper
• Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance.

  1999cited by this paper
• Identification of conserved promoter elements for aldB and isozyme specific residues in aldolase B.

  1999cited by this paper
• Hereditary fructose intolerance.

  1998cited by this paper
• Efficient 3'-end formation of human beta-globin mRNA in vivo requires sequences within the last intron but occurs independently of the splicing reaction.

  1998cited by this paper
• Recommendations for a nomenclature system for human gene mutations

  1998cited by this paper
• Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population.

  1996cited by this paper
• Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.

  1996cited by this paper
• Molecular basis of hereditary fructose intolerance: Mutations and polymorphisms in the human aldolase B gene

  1995cited by this paper
• Aldolase B and fructose intolerance

  1994cited by this paper
• Construction of a novel database containing aberrant splicing mutations of mammalian genes.

  1994cited by this paper
• The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

  1992cited by this paper
• Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease.

  1992cited by this paper
• Simplified mammalian DNA isolation procedure.

  1991cited by this paper
• Molecular evidence for compound heterozygosity in hereditary fructose intolerance.

  1990cited by this paper
• Hereditary fructose intolerance.

  1990cited by this paper
• Molecular analysis of aldolase B genes in hereditary fructose intolerance.

  1990cited by this paper
• A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

  1990cited by this paper
• Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

  1989cited by this paper
• Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.

  1988cited by this paper
• Transcription of the dystrophin gene in human muscle and non-muscle tissues

  1988cited by this paper
• Molecular architecture of rabbit skeletal muscle aldolase at 2.7-A resolution.

  1987cited by this paper
• Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.

  1987cited by this paper
• Characterization of the human aldolase B gene.

  1986cited by this paper
• Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones.

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

  1983cited by this paper
• [Hereditary fructose intolerance].

  1983cited by this paper
• Disorders of fructose metabolism

  1976cited by this paper
• COMPARATIVE STUDIES OF LIVER AND MUSCLE ALDOLASE. II. IMMUNOCHEMICAL AND CHROMATOGRAPHIC DIFFERENTIATION.

  1963cited by this paper
• Protein measurement with the Folin phenol reagent.

  1951cited by this paper

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  2024cites this paper
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  2023cites this paper
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  2021cites this paper
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  2021cites this paper
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  2017cites this paper
• Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica

  2016cites this paper
• Hereditary Fructose Intolerance

  2015cites this paper
• Aceruloplasminaemia: A Family with a Novel Mutation and Long-Term Therapy with Deferasirox

  2014cites this paper
• Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population

  2010cites this paper
• Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion

  2010cites this paper
• Secondary disorders of glycosylation in inborn errors of fructose metabolism

  2009cites this paper
• Chronic diarrhea in a 5-year-old girl: pitfall in routine laboratory testing with potentially severe consequences.

  2009cites this paper
• Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

  2008cites this paper
• Different genotypes in a large Italian family with recurrent hereditary fructose intolerance

  2008cites this paper
• Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.

  2006cites this paper
• Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene

  2004cites this paper
• Protocolo de estudio en hepatopatías de etiología metabólica

  2003cites this paper
• [Study protocol in metabolic liver disease].

  2003cites this paper