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

Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.

European journal of pediatrics - 1 Nov 1992

Strumberg D, Hauffa B P, Horsthemke B, Grosse-Wilde H

Abstract excerpt

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OHase) deficiency is inherited as an autosomal recessive trait. Patients can present with the salt wasting, simple virilizing or a non-classical form of the disease. The gene for P450C21, the enzyme carrying 21-OHase activity, has been mapped to the major histocompatibility complex on chromosome 6p. Using molecular hybridisation techniques we have...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Genotype
Share to Haplotypes

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

Share to HLA-B Antigens

Share to HLA-DR Antigens

Share to Major Histocompatibility Complex

Share to Mutation

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1361434
DOI: 10.1007/BF01957933

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

Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.PMID 1361434Read ↗

Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.Semantic proximity Read ↗

Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.Semantic proximity Read ↗

A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.Semantic proximity Read ↗

A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.Semantic proximity Read ↗

Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.Semantic proximity Read ↗

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.Semantic proximity Read ↗

Molecular genetics of congenital adrenal hyperplasia (21‐hydroxylase deficiency): implications for diagnosis, prognosis and treatmentSemantic proximity Read ↗

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.Semantic proximity Read ↗

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.Semantic proximity Read ↗

21-Hydroxylase deficiency: from molecular genetics to clinical presentation.Semantic proximity Read ↗

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