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http://purl.uniprot.org/citations/33631127http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/33631127http://www.w3.org/2000/01/rdf-schema#comment"

Background

Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. The disease shows a marked variability in clinical expression. We studied the molecular features of nine unrelated Argentinian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase deficiency.

Design and methods

Routine hematologic investigations were performed to rule out other causes of chronic hemolytic anemia. Sanger sequencing and in-sílico analysis were carried out to identify and characterize the genetics variants.

Results

Six different novel missense variants were detected among the 18 studied alleles: c.661 G > C (Asp221His), c.956 G > T (Gly319Val), c.1595 G > C (Arg532Pro), c.347 G > A (Arg116Gln), c.1232 G > T (Gly411Val), c.1021G > A (Gly341Ser). Structural implications of amino-acid substitutions were correlated with the clinical phenotypes seen in the probands.

Conclusions

This is the first comprehensive report on molecular characterization of pyruvate kinase deficiency in Argentina and the second from South America that would contribute to our knowledge on the distribution and frequency of PKLR variants in our population but also offer new insights into the interpretation of the effect of PKLR variants and phenotype."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.org/dc/terms/identifier"doi:10.1016/j.clinbiochem.2021.02.003"xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Defelipe L.A."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Turjanski A."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Bianchi P."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Fermo E."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Fernandez D."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Chaves A."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Feliu-Torres A."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Pepe C."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Aguirre F."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Milanesio B."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Aizpurua L."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Albero A."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Avalos Gomez V."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Eandi Eberle S."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/author"Paula Dieuzeide M."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/name"Clin Biochem"xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/pages"26-30"xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/title"Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients."xsd:string
http://purl.uniprot.org/citations/33631127http://purl.uniprot.org/core/volume"91"xsd:string
http://purl.uniprot.org/citations/33631127http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/33631127
http://purl.uniprot.org/citations/33631127http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/33631127
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