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Article

Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.

The British journal of dermatology - 1 Oct 2006

Sawamura D, Mochitomi Y, Kanzaki T, Nakamura H, Shimizu H

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Share to Amino Acid Substitution
Share to Codon
Share to Collagen Type VII
Share to DNA Mutational Analysis

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

Share to Epidermolysis Bullosa Dystrophica

Share to Glycine

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Source

Identifiers

PMID: 16965438
DOI: 10.1111/j.1365-2133.2006.07388.x

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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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.PMID 16965438Read ↗

In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.Semantic proximity Read ↗

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation.Semantic proximity Read ↗

Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.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 ↗

A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

The COL7A1 mutation database.Semantic proximity Read ↗

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