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

Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.

American journal of human genetics - 1 Nov 2005

Pasmooij Anna M G, Pas Hendri H, Deviaene Franciska C L, Nijenhuis Miranda, Jonkman Marcel F

Abstract excerpt

Revertant mosaicism by somatic reversion of inherited mutations has been described for a number of genetic diseases. Several mechanisms can underlie this reversion process, such as gene conversion, crossing-over, true back mutation, and second-site mutation. Here, we report the occurrence of multiple corrections in two unrelated probands with revertant mosaicism of non-Herlitz junctional epidermolysis bullosa, an...

Read the complete abstract on PubMed

Topics

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

Share to Autoantigens
Share to Collagen Type XVII

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epidermolysis Bullosa

Share to Gene Conversion

Share to Microscopy, Confocal

Share to Non-Fibrillar Collagens

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 16252234
DOI: 10.1086/497344
PMCID: PMC1271383

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.PMID 16252234Read ↗

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.Semantic proximity Read ↗

Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.Semantic proximity Read ↗

Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosaSemantic proximity Read ↗

Revertant mosaicism in genodermatoses.Semantic proximity Read ↗

Revertant mosaicism in the skin.Semantic proximity Read ↗

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.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 ↗

A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele.Semantic proximity Read ↗

Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.Semantic proximity Read ↗

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