Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Clinical Significance of Gene Mutation Detection for Female Heterozygotes with Glucose-6-Phosphate Dehydrogenase Deficiency].

Zhongguo shi yan xue ye xue za zhi - 1 Oct 2020

He YingHE, Chen Xiong-Hao, Lin Guang-Cheng, Wang Qiong, Ling Li-Fen, Lu Xue-Dong

Abstract excerpt

OBJECTIVE: To explore the clinical significance of G6PD gene mutation detection in female heterozygote with G6PD deficiency. METHODS: G6PD activity and fourteen common G6PD gene mutations in female blood samples were detected by biochemical phenotype detection and PCR-reverse dot blotting, respectively. Unidentified genotype of G6PD positive samples was further ascertained by direct DNA sequencing. The results...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genotype
Share to Glucosephosphate Dehydrogenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glucosephosphate Dehydrogenase Deficiency

Share to Heterozygote

Share to Mutation

Source

Identifiers

PMID: 33067986
DOI: 10.19746/j.cnki.issn.1009-2137.2020.05.054

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical Significance of Gene Mutation Detection for Female Heterozygotes with Glucose-6-Phosphate Dehydrogenase Deficiency].PMID 33067986Read ↗

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.Semantic proximity Read ↗

[Detection of gene mutation in glucose-6-phosphate dehydrogenase deficiency by RT-PCR sequencing].Semantic proximity Read ↗

[Correlation analysis of genotypes and the enzymatic activities of glucose-6-phosphate dehydrogenase in neonates in Guangzhou].Semantic proximity Read ↗

[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan].Semantic proximity Read ↗

Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR.Semantic proximity Read ↗

Determination of optimal cutoff value to accurately identify glucose-6-phosphate dehydrogenase-deficient heterozygous female neonates.Semantic proximity Read ↗

Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype-phenotype association throughout an activity distribution.Semantic proximity Read ↗

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017Semantic proximity Read ↗

Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutations.Semantic proximity Read ↗

Evaluating the relationship between Clinical G6PD enzyme activity and gene variants.Semantic proximity Read ↗

Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China.Semantic proximity Read ↗

Glucose-6-Phosphate Dehydrogenase Deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.