A Novel and a Previously Described Compound Heterozygous PKLR Gene Mutations Causing Pyruvate Kinase Deficiency in a Chinese Child

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Fetal and Pediatric Pathology

• Publication date

  2014-05-05

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.3109/15513815.2014.890260PMID 24601847
• 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.

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  2011cited by this paper
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  2011cited by this paper
• GLUCOSE-6-PHOSPHATE DEHYDROGENASE AND RED CELL PYRUVATE KINASE DEFICIENCY IN NEONATAL JAUNDICE CASES IN EGYPT

  2010cited by this paper
• Spectrum of novel mutations in the human PKLR gene in pyruvate kinase‐deficient Indian patients with heterogeneous clinical phenotypes

  2009cited by this paper
• Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme.

  2009cited by this paper
• Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: Structural implications of amino acid substitutions in PK

  2009cited by this paper
• Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency

  2008cited by this paper
• Prevalence of pyruvate kinase deficiency among the south Iranian population: quantitative assay and molecular analysis.

  2008cited by this paper
• Pyruvate kinase deficiency.

  2007cited by this paper
• Pyruvate kinase deficiency: the genotype-phenotype association.

  2007cited by this paper
• Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency.

  2007cited by this paper
• Red cell pyruvate kinase deficiency: molecular and clinical aspects

  2005cited by this paper
• Pyruvate kinase: current status of regulatory and functional properties.

  2003cited by this paper
• Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.

  2003cited by this paper
• Structure and Function of Human Erythrocyte Pyruvate Kinase

  2002cited by this paper
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  2000cited by this paper
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  2000cited by this paper
• Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.

  2000cited by this paper
• Prevalence of pyruvate kinase deficiency in northern European population in the north of England. Northern Region Haematologists Group.

  2000cited by this paper
• Prevalence of pyruvate kinase deficiency in a northern European population in the north of England

  2000cited by this paper
• Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.

  1998cited by this paper
• Pyruvate kinase deficiency.

  1971cited by this paper

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  2016cites this paper
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