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

[Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2024

Qin Shengfang, Ye Mengling, Yin Yan, Wang Jin, Wang Xueyan, Zhang Zhuo, Chen Ximin, Yan Mengjia, He Yuxia, Yi Danying, Deng Qin

Abstract excerpt

OBJECTIVE: To study the trinucleotide repeats of GCN (GCA, GCT, GCC, GCG) encoding Alanine in exon 3 of the PHOX2B gene among healthy individuals from southwest China and two patients with Congenital central hypoventilation syndrome (CCHS). METHODS: The number and sequence of the GCN repeats of the PHOX2B gene were analyzed by capillary electrophoresis, Sanger sequencing and cloning sequencing of 518 healthy...

Read the complete abstract on PubMed

Topics

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

Share to Homeodomain Proteins
Share to Hypoventilation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Share to Sleep Apnea, Central

Share to Transcription Factors

Source

Identifiers

PMID: 38171556
DOI: 10.3760/cma.j.cn511374-20221209-00854

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome].PMID 38171556Read ↗

Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report.Semantic proximity Read ↗

Genetic study of apatient with congenital central hypoventilation syndrome in Iran: a case reportSemantic proximity Read ↗

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.Semantic proximity Read ↗

[Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].Semantic proximity Read ↗

A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.Semantic proximity Read ↗

PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome.Semantic proximity Read ↗

Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.Semantic proximity Read ↗

PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.Semantic proximity Read ↗

Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.Semantic proximity Read ↗

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).Semantic proximity Read ↗

Clinical practices and prognosis of Congenital Central Hypoventilation Syndrome : based on 20-year-records in KoreaSemantic proximity Read ↗

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