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Article

A novel PKLR gene mutation identified using advanced molecular techniques.

Pediatric transplantation - 1 Mar 2018

He Yunyan, Luo Jianming, Lei Yonghong, Jia Siyuan, Liao Ning

Abstract excerpt

This study's purposes were to diagnose intractable hemolytic anemia and to provide guiding treatment for the affected family members. We performed NGS in a panel of 600 genes for blood diseases on a patient with obscure hemolytic anemia and her parents. We confirmed the diagnosis of pyruvate kinase deficiency, identified a novel homozygous mutation of the PKLR gene (NM_000298: exon 6: c.T941C: p.I314T), and ruled...

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Source

Identifiers

PMID: 29349879
DOI: 10.1111/petr.13143

Genes

PKLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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