Variant: rs1035640530 

    present in Gene: PKLR
    present in Chromosome: 1
    Position on Chromosome: 155293526
    Alleles of this Variant: G/T

rs1035640530 in PKLR gene and Deficiency of pyruvate kinase PMID 8180378 1994 Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.

PMID 9482576 1998 Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.

PMID 8161798 1994 Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.

PMID 8483951 1993 Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

PMID 9886305 1998 A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry).

PMID 8481523 1993 Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia.

PMID 9827908 1998 Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH).

PMID 8476433 1993 Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK.

PMID 11328279 2001 Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.

PMID 21794208 2011 Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

PMID 1536957 1992 Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.

PMID 2018831 1991 Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.

PMID 19085939 2009 Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

PMID 7706479 1995 Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

PMID 11960989 2002 Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.

PMID 1896471 1991 cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia.