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

A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.

The British journal of dermatology - 1 Oct 2006

Suzuki S, Shimomura Y, Yamamoto Y, Kariya N, Shibuya M, Ito M, Fujiwara H

Abstract excerpt

No abstract is available from the source.

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 Collagen Type VII
Share to DNA Mutational Analysis
Share to Epidermolysis Bullosa Dystrophica

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Infant, Newborn

Share to Mutation

Source

Identifiers

PMID: 16965439
DOI: 10.1111/j.1365-2133.2006.07397.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.PMID 16965439Read ↗

A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation.Semantic proximity Read ↗

A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant.Semantic proximity Read ↗

Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?Semantic proximity Read ↗

Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.Semantic proximity Read ↗

Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.Semantic proximity Read ↗

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

Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type.Semantic proximity Read ↗

Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1.Semantic proximity Read ↗

Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N.Semantic proximity Read ↗

Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.Semantic proximity Read ↗

A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa.Semantic proximity Read ↗

Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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