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

In vivo reversion to normal of inherited mutations in humans.

Journal of medical genetics - 1 Oct 2003

Hirschhorn R

Abstract excerpt

There are increasing reports of multiple different types of somatic mosaicism detected in patients with inherited and non-inherited disorders. The characteristics of several of the major types of mosaicism will be outlined, and contrasted with somatic mosaicism, which is the focus of this article...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Deaminase
Share to Bloom Syndrome
Share to Epidermolysis Bullosa

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fanconi Anemia

Share to Mosaicism

Share to Severe Combined Immunodeficiency

Share to Tyrosinemias

Share to Wiskott-Aldrich Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 14569115
DOI: 10.1136/jmg.40.10.721
PMCID: PMC1735296

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14569115-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

In vivo reversion to normal of inherited mutations in humans.PMID 14569115Read ↗

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.Semantic proximity Read ↗

Mechanisms and consequences of somatic mosaicism in humans.Semantic proximity Read ↗

Revertant mosaicism in human genetic disorders.Semantic proximity Read ↗

Revertant mosaicism in genodermatoses.Semantic proximity Read ↗

Revertant mosaicism in the skin.Semantic proximity Read ↗

Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders.Semantic proximity Read ↗

Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction.Semantic proximity Read ↗

Duchenne muscular dystrophy: evidence for somatic reversion of the mutation in man.Semantic proximity Read ↗

Revertant somatic mosaicism in the Wiskott-Aldrich syndrome.Semantic proximity Read ↗

Reversion Mosaicism in Primary Immunodeficiency Diseases.Semantic proximity Read ↗

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.Semantic proximity Read ↗

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