Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency

• Shruti Bagla,
• Kanta Bhambhani,
• Manisha Gadgeel,
• Steven Buck,
• Jian-Ping Jin,
• Yaddanapudi Ravindranath

Affiliations

Shruti Bagla

Division of Hematology/Oncology, Department of Pediatrics, Wayne State University – School of Medicine, and Children’s Hospital of Michigan

Kanta Bhambhani

Division of Hematology/Oncology, Department of Pediatrics, Wayne State University – School of Medicine, and Children’s Hospital of Michigan

Manisha Gadgeel

Division of Hematology/Oncology, Department of Pediatrics, Wayne State University – School of Medicine, and Children’s Hospital of Michigan

Steven Buck

Division of Hematology/Oncology, Department of Pediatrics, Wayne State University – School of Medicine, and Children’s Hospital of Michigan

Jian-Ping Jin

Department of Physiology, Wayne State University, School of Medicine, Detroit, MI, USA

Yaddanapudi Ravindranath

Division of Hematology/Oncology, Department of Pediatrics, Wayne State University – School of Medicine, and Children’s Hospital of Michigan