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

A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.

BMC medical genetics - 17 Jul 2020

Tong Yongqing, Liu Bei, Zheng Hongyun, Bao Anyu, Wu Zegang, Gu Jian, Tan Bi-Hua, McGrath Mary, Kane Shriya, Song Chunhua, Li Yan

Abstract excerpt

BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired response to oxidizing agents. Screening for new variations of the gene helps with early diagnosis of D-G6PD resulting in a reduction of disease related complications and ultimately increased life...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Conserved Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Evolution, Molecular

Share to Glucosephosphate Dehydrogenase

Share to Glucosephosphate Dehydrogenase Deficiency

Share to Infant

Share to Models, Molecular

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 32680472
DOI: 10.1186/s12881-020-01090-2
PMCID: PMC7367331

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.PMID 32680472Read ↗

Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.Semantic proximity Read ↗

[Phenotypic and genotypic spectra of patients with glucose-6-phosphate dehydrogenase deficiency gene known pathogenic variants: a single-center study].Semantic proximity Read ↗

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.Semantic proximity Read ↗

Genetic Spectrum and Clinical Early Natural History of Glucose-6-Phosphate Dehydrogenase Deficiency in Mexican Children Detected Through Newborn Screening.Semantic proximity Read ↗

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

Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research ProgramSemantic proximity Read ↗

Pathogenic G6PD variants: Different clinical pictures arise from different missense mutations in the same codonSemantic proximity Read ↗

Glucose-6-phosphate dehydrogenase deficiency: a historical perspectiveSemantic proximity Read ↗

Neonatal genetic screening of Glucose-6-phosphate dehydrogenase deficiency through next-generation sequencing.Semantic proximity Read ↗

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.Semantic proximity Read ↗

Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study.Semantic proximity Read ↗

Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.Semantic proximity Read ↗

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