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

[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].

Zhonghua yi xue za zhi - 24 Dec 2019

Gao Y J, Yu B Q, Lu L, Wu X Y, Mao J F, Wang X, Tong A L, Chen S, Nie M

Abstract excerpt

Objective: To analyze the copy number variation of CYP21A2 gene in 21-hydroxylase deficiency (21-OHD) patients, and identify the three copy repetition, single copy deletion of CYP21A2 gene and the type and proportion of CYP21A1P/CYP21A2 fused gene in 21-OHD patients. Methods: A total of 424 patients (140 males and 284 females) with 21-OHD who visited Peking Union Medical College Hospital from January 2015 to...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genotype

Share to Mutation

Share to Pseudogenes

Share to Steroid 21-Hydroxylase

Share to Young Adult

Source

Identifiers

PMID: 31874511
DOI: 10.3760/cma.j.issn.0376-2491.2019.48.002

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

[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].PMID 31874511Read ↗

[Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].Semantic proximity Read ↗

Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.Semantic proximity Read ↗

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.Semantic proximity Read ↗

The spectrum of CYP21A2 gene mutations in patients with 2l-hydroxylase deficiency -induced congenital adrenal hyperplasia in a Chinese cohortSemantic proximity Read ↗

Novel and Rapid Molecular Diagnosis Methods in Comprehensive Genetic Analysis of 21-hydroxylase DeficiencySemantic proximity Read ↗

[Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].Semantic proximity Read ↗

21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.Semantic proximity Read ↗

Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.Semantic proximity Read ↗

[Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency].Semantic proximity Read ↗

Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia ChildrenSemantic proximity Read ↗

[Consensus on laboratory diagnosis of congenital adrenal hyperplasia due to 21 hydroxylase deficiency].Semantic proximity Read ↗

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