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

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.

Biochemical and biophysical research communications - 23 Dec 2005

Posteraro Patrizia, Pascucci Monica, Colombi Marina, Barlati Sergio, Giannetti Alberto, Paradisi Mauro, Mustonen Aki, Zambruno Giovanna, Castiglia Daniele

Abstract excerpt

Dystrophic epidermolysis bullosa (DEB) is a rare clinically heterogeneous genodermatosis due to genetic defects in type VII collagen gene (COL7A1). Identification of COL7A1 mutations is a challenge since this gene comprises 118 exons and more than 300 mutations scattered over the gene have been reported. Here, we describe for the first time the use of denaturing high performance liquid chromatography (DHPLC) for...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen

Share to DNA Mutational Analysis

Share to Epidermolysis Bullosa Dystrophica

Share to Mutation

Share to Nucleic Acid Denaturation

Source

Identifiers

PMID: 16271705
DOI: 10.1016/j.bbrc.2005.10.097

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

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.PMID 16271705Read ↗

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.Semantic proximity Read ↗

The COL7A1 mutation database.Semantic proximity Read ↗

Novel and recurrent COL7A1 mutation in a Polish population.Semantic proximity Read ↗

Real-time PCR detection of the recessive dystrophic epidermolysis bullosa-associated c.2470insG mutation in unrelated Mexican families.Semantic proximity Read ↗

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.Semantic proximity Read ↗

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.Semantic proximity Read ↗

A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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