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
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
Dynamics of genomic and immune responses during primary immunotherapy resistance in mismatch repair-deficient tumors.
Takahashi N et al.
Cold Spring Harbor Molecular Case Studies, 2020
33028646 (PubMed )
Supplement: supp_mcs.a005678_Supplemental_Tables_.xlsx › Supplementary_Table_S2
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
van Wijk R et al.
Human Mutation, 2009
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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