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

[Technique of PCR-ACRS for the detection of CYP21 gene mutations].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2003

Liao Xiang-yun, Zhang Ya-fen, Gu Xue-fan

Abstract excerpt

OBJECTIVE: To establish a rapid method of detecting CYP21 gene mutations. METHODS: Fifty Chinese patients with 21-hydroxylase deficiency and some of their families were investigated. Blood samples were obtained for extraction of peripheral blood lymphocytes. A search for restriction sites discriminating between the morbid and the normal in CYP21 gene was made by the computer program DNAssist. PCR-based...

Topics

Adrenal Hyperplasia, Congenital
China
DNA
DNA Mutational Analysis
Deoxyribonucleases, Type II Site-Specific
Female
Humans
Male
Mutation
Polymerase Chain Reaction
Reproducibility of Results

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sensitivity and Specificity

Steroid 21-Hydroxylase

Source

Identifiers

PMID: 14556206

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Technique of PCR-ACRS for the detection of CYP21 gene mutations].PMID 14556206Read ↗

[Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency].Semantic proximity Read ↗

[Establishment of an allele-specific PCR method for direct screening of CYP21A2 gene mutation].Semantic proximity Read ↗

[CYP21 gene point mutations study in 21-hydroxylase deficiency patients].Semantic proximity Read ↗

[Molecular characterization of mutations and phenotype/genotype correlation in Chinese patients with 21-hydroxylase deficiency].Semantic proximity Read ↗

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

Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese.Semantic proximity Read ↗

Rapid screening method for detecting mutations in the 21-hydroxylase gene.Semantic proximity Read ↗

[Mutation analysis in families with 21-hydroxylase deficiency].Semantic proximity Read ↗

A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.Semantic proximity Read ↗

Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.Semantic proximity Read ↗

Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase.Semantic proximity Read ↗

Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese.Semantic proximity Read ↗

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