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[A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing].

Zhongguo shi yan xue ye xue za zhi - 1 Oct 2015

Li Dong-Liang, Zhang Jing, Liu Yan-Li, Jiao Bao-Quan, Wang Zhi-Wei, Wang You-Jun, Li Wen-Jing, Hou Lan-Fen, Guo Hong-Mou, Sun Yu, Guo Xiao

Abstract excerpt

OBJECTIVE: To explore the molecular mechanism of erythrocyte pyruvate kinase deficiency (PKD). METHODS: Targeted sequence capture and next-generation sequencing (NGS) were used to detect the regions of exon and exon-intron boundarie of PKLR gene in a clinical suspected PKD patient. The protein function of mutant gene was forecasted by the SIFT and PolyPhen-2 databank, after the mutation of PKLR gene in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26524058
DOI: 10.7534/j.issn.1009-2137.2015.05.046

Genes

PKLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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