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

Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.

American journal of medical genetics - 2 Jan 1996

Witchel S S, Lee P A, Trucco M

Abstract excerpt

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal-recessive disorder. During our routine genotyping of affected individuals and their relatives using allele-specific oligonucleotide hybridization and single-strand conformational polymorphism analysis, we identi...

Topics

Adrenal Hyperplasia, Congenital
Alleles
Alternative Splicing
Base Sequence
Child
DNA Primers
Exons
Female
Genetic Carrier Screening
Haplotypes
Homozygote
Humans
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Pedigree

Point Mutation

Polymerase Chain Reaction

Source

Identifiers

PMID: 8741909
DOI: 10.1002/(SICI)1096-8628(19960102)61:1<2::AID-AJMG1>3.0.CO;2-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8741909-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 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

Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.PMID 8741909Read ↗

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.Semantic proximity Read ↗

Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.Semantic proximity Read ↗

Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel.Semantic proximity Read ↗

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.Semantic proximity Read ↗

Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.Semantic proximity Read ↗

Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.Semantic proximity Read ↗

Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?Semantic proximity Read ↗

Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.Semantic proximity Read ↗

Nonclassical adrenal hyperplasia due to 21-hydroxylase-deficiency: does genotyping predict the clinical manifestation?Semantic proximity Read ↗

Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis.Semantic proximity Read ↗

Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.Semantic proximity Read ↗

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