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

Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease

4 Nov 2004

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Source

Identifiers

PMID: 15538630
DOI: 10.1007/s00439-004-1210-y

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

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

Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz diseasePMID 15538630Read ↗

Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.Semantic proximity Read ↗

Laminin-5 Mutational Analysis in an Italian Cohort of Patients with Junctional Epidermolysis BullosaSemantic proximity Read ↗

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.Semantic proximity Read ↗

Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.Semantic proximity Read ↗

Cloning of the Laminin α3 Chain Gene (LAMA3) and Identification of a Homozygous Deletion in a Patient with Herlitz Junctional Epidermolysis BullosaSemantic proximity Read ↗

Targeted Inactivation of Murine Laminin γ2-Chain Gene Recapitulates Human Junctional Epidermolysis BullosaSemantic proximity Read ↗

Laminins and human disease.Semantic proximity Read ↗

Biological function of laminin-5 and pathogenic impact of its deficiency.Semantic proximity Read ↗

Laminin isoforms in development and disease.Semantic proximity Read ↗

Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation.Semantic proximity Read ↗

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa SimplexSemantic proximity Read ↗

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.Semantic proximity Read ↗

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