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Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)

Known as: DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT, DDEB, Epidermolysis Bullosa Dystrophica, Autosomal Dominant 
National Institutes of Health

Related topics

Related topics

9 relations
Atrophic scarsAutosomal dominant inheritanceCOL7A1, GLY2034ARGCockayne-Touraine Disease

Broader (1)

Epidermolysis Bullosa Dystrophica

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
COL7A1 mutation G2037E causes epidermal retention of type VII collagen
AbstractCOL7A1 glycine substitution (GS) mutations result in dominant and recessive dystrophic epidermolysis bullosa (DDEB and… 
2004
2004
A day in the life of a patient with DDEB.
1998
1998
Correlates of Photoreceptor Rescue by Transplantation of Human Fetal RPE in the RCS Rat
This study uses a water maze paradigm as a tool to assess posttransplantation changes in behavior associated with a visual… 
1997
1997
Efficacy of Nonfetal Human RPE for Photoreceptor Rescue: A Study in Dystrophic RCS Rats
This study determines the efficacy of nonfetal human retinal pigment epithelium (RPE) for photoreceptor rescue utilizing the… 
1997
1997
Identification of the glycine‐to‐arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary
Abstract Epidermolysis bullosa (EB) represents a group of genodermatoses characterized by fragility and easy blistering of the… 
1996
1996
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution…
We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive… 
Review
1993
Review
1993
The molecular genetics of dystrophic epidermolysis bullosa.
EPIDERMOLYSIS BULLOSA (EB) is a heterogeneous group of inherited skin diseases characterized by blistering of the skin and mucous… 
1989
1989
Chondroitin 6-sulfate proteoglycan but not heparan sulfate proteoglycan is abnormally expressed in skin basement membrane from patients with dominant and recessive dystrophic epidermolysis bullosa.
Two distinct groups of proteoglycans, chondroitin 6-sulfate (C6-S) proteoglycan and heparan sulfate proteoglycan (HSPG), have… 
1984
1984
Clinical appearance of skin lesions and disturbances of pigmentation in localized scleroderma.
Skin manifestations of localized scleroderma were assessed clinically in 58 patients presenting 214 circumscribed scleroderma… 
1982
1982
Mechanics and energetics of muscle contraction in normal and dystrophic chickens.
Energy liberation and isometric force generation were compared at 25 degrees C in isolated normal (n = 15) and dystrophic (n = 18… 
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