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Article

Hemolytic anemia associated with a novel heterozygote mutation 1183A in the PK-LR gene (PK- Jordan).

International journal of laboratory hematology - 1 Aug 2014

Karadsheh N S, Gelbart T, Naffa R G

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Share to Anemia, Hemolytic, Congenital Nonspherocytic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24330591
DOI: 10.1111/ijlh.12174

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Hemolytic anemia associated with a novel heterozygote mutation 1183A in the PK-LR gene (PK- Jordan).PMID 24330591Read ↗

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PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.Semantic proximity Read ↗

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Worsening of the clinical-hematological picture in a patient with a rare PK-LR compound heterozygosis after mitral replacement.Semantic proximity Read ↗

Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy.Semantic proximity Read ↗

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Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia.Semantic proximity Read ↗

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.Semantic proximity Read ↗

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