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Article

[Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2016

Li Dongliang, Zhang Jing, Jiao Baoquan, Liu Yanli, Wang Youjun, Wang Zhiwei, Li Wenjing, Hou Lanfen, Sun Yu, Guo Hongmou, Guo Xiao

Abstract excerpt

OBJECTIVE: To evaluate the feasibility of genetic and prenatal diagnosis for a family affected with pyruvate kinase deficiency (PKD). METHODS: Targeted sequence capture and high-throughput sequencing technology was used to detect the exons and exon-intron boundaries of the PKLR gene in a clinically suspected PKD patient. Meanwhile, the genotype of the pedigree was validated by Sanger sequencing. Prenatal genetic...

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Source

Identifiers

PMID: 26829734
DOI: 10.3760/cma.j.issn.1003-9406.2016.01.013

Genes

PKLR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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