1.
Shruti Bagla, Kanta Bhambhani, Manisha Gadgeel, Steven Buck, Jian-Ping Jin, Yaddanapudi Ravindranath. 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. haematol [Internet]. 2019Aug.31 [cited 2024Apr.27];104(9):e428-e431. Available from: https://haematologica.org/article/view/9066