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Article

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Sept 2021

Baardman R, Bremer J, Diercks G F H, Jan S Z, Lemmink H H, Bolling M C, Van den Akker P C

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Share to Collagen Type VII
Share to Epidermolysis Bullosa Dystrophica
Share to Glycine
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 33914976
DOI: 10.1111/jdv.17328

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa.PMID 33914976Read ↗

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

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

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 ↗

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

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

A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.Semantic proximity Read ↗

A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive 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 ↗

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

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

A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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