Open AccessCompound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency
Author(s) -
Shruti Bagla,
Kanta Bhambhani,
Manisha Gadgeel,
Steven Buck,
JianPing Jin,
Yaddanapudi Ravindranath
Publication year - 2019
Publication title -
haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.782
H-Index - 142
eISSN - 1592-8721
pISSN - 0390-6078
DOI - 10.3324/haematol.2018.214692
Subject(s) - pyruvate kinase deficiency , missense mutation , pyruvate kinase , genetics , loss of heterozygosity , compound heterozygosity , biology , exon , mutation , gene , hemolytic anemia , coding region , glycolysis , enzyme , allele , biochemistry , immunology