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

Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.

American journal of human genetics - 1 Feb 1997

Gatalica B, Pulkkinen L, Li K, Kuokkanen K, Ryynänen M, McGrath J A, Uitto J

Abstract excerpt

Generalized atrophic benign epidermolysis bullosa (GABEB) is a nonlethal variant of junctional epidermolysis bullosa (JEB). Previous findings have suggested that type XVII collagen is the candidate gene for mutations in this disease. We now have cloned the entire human type XVII collagen gene (COL17A1) and have elucidated its intron-exon organization. The gene comprises 56 distinct exons, which span approximately...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Alleles

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

Share to Base Sequence

Share to Child, Preschool

Share to Cloning, Molecular

Share to DNA Primers

Share to Heterozygote

Source

Open in PubMed Open full text

Identifiers

PMID: 9012408
PMCID: PMC1712405

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

Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.PMID 9012408Read ↗

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.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 ↗

A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz Junctional Epidermolysis BullosaSemantic proximity Read ↗

Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.Semantic proximity Read ↗

Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.Semantic proximity Read ↗

Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25.Semantic proximity Read ↗

Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.Semantic proximity Read ↗

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

Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1.Semantic proximity Read ↗

Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.Semantic proximity Read ↗

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision MedicineSemantic proximity Read ↗

Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.Semantic proximity Read ↗

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