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.

@article{Bagla2019CompoundHI,
  title={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.},
  author={Shruti Bagla and Kanta J. Bhambhani and Manisha Gadgeel and Steven K Buck and Jian-Ping Jin and Yaddanapudi Ravindranath},
  journal={Haematologica},
  year={2019}
}
BETA

Similar Papers

Topics from this paper.