Associated Papers
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Dongerdiye R et al.
Annals of Hematology, 2023
Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
Warang P et al.
Blood Cells, Molecules & Diseases, 2013
Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.
Kedar P et al.
Clinical Genetics, 2009
Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.
Demina A et al.
Blood, 1998
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