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

Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution.

Central European journal of public health - 1 Sept 2003

Kotaska K, Lisá L, Průsa R

Abstract excerpt

CYP21 gene molecular analysis was performed to determine the mutational analysis of 87 unrelated Czech patients with different forms of steroid 21-hydroxylase deficiency. Eight of the most common point mutations (intron 2 splice, P30L, 8 bp deletion in exon 3, I172N, V281L, Q318X, R356W, P453S) w...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hyperplasia, Congenital
Share to Analysis of Variance
Share to Cytochrome P-450 Enzyme System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Czech Republic

Share to Gene Deletion

Share to Global Health

Share to Introns

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 14514162

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14514162-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution.PMID 14514162Read ↗

Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.Semantic proximity Read ↗

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.Semantic proximity Read ↗

The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.Semantic proximity Read ↗

Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.Semantic proximity Read ↗

Mutational analysis and genotype-phenotype correlation in patients with classic 21-hydroxylase deficiency from transylvania (north-west Romania).Semantic proximity Read ↗

Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.Semantic proximity Read ↗

21-Hydroxylase deficiency in Brazil.Semantic proximity Read ↗

Mutation analysis of the CYP21A2 gene in the Iranian population.Semantic proximity Read ↗

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

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

The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia.Semantic proximity Read ↗

Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.Semantic proximity Read ↗

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