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
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
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
Fermo E et al.
British Journal of Haematology, 2005
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