Targeted Next-Generation Sequencing Identifies Eighteen Novel Mutations Expanding the Molecular and Clinical Spectrum of PKLR Gene Disorders in the Indian Population
Annals of hematology（2023）
关键词
Pyruvate kinase deficiency,Hereditary non-spherocytic hemolytic anemia,Next Generation Sequencing,Genetic analysis,MLPA,Molecular modeling,Pyruvate kinase,Red cell enzymes,India
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