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Epidermolysis Bullosa Simplex

Known as: Bullosa Simplices, Epidermolysis, Epidermolysis Bullosa Simplex [Disease/Finding], Epidermolysis Bullosa Simplices 
A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN… 
National Institutes of Health

Related topics

Related topics

19 relations

Narrower (8)

Epidermolysa bullosa simplex and limb girdle muscular dystrophyEpidermolysis Bullosa Herpetiformis Dowling-MearaEpidermolysis Bullosa Simplex KobnerEpidermolysis Bullosa Simplex Superficialis
Epidermolysis Bullosa Simplex With Pyloric AtresiaIn BloodIntegumentary systemKeratin-14

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland
Mutation analysis in keratins 5/14 (K5/14) had been performed in five Polish families with epidermolysis bullosa simplex (EBS) to… 
Review
2003
Review
2003
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
Epidermolysis bullosa simplex is a group of blistering skin disorders caused by defects in one of the keratin genes, KRT5 and… 
2002
2002
Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type).
Epidermolysis bullosa simplex (EBS) is a group of hereditary bullous diseases characterized by intraepidermal blistering due to… 
2001
2001
Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.
Epidermolysis bullosa simplex is a heterogeneous group of inherited bullous disorders due to mutations in keratins 5 and 14. We… 
1999
1999
A recurrent keratin 14 mutation in Dowling–Meara epidermolysis bullosa simplex
SIR, Epidermolysis bullosa simplex (EBS) is an inherited skinfragility disorder characterized by a cytolysis of basal… 
1997
1997
Altered distribution of plectin/HD1 in dystrophinopathies
Highly Cited
1994
Highly Cited
1994
Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.
Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin… 
Highly Cited
1993
Highly Cited
1993
Identification of a leucine‐to‐proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex
We have previously reported linkage of a large Finnish family with the generalized (Köbner) type of epidermolysis bullosa simplex… 
Review
1993
Review
1993
Epidermolysis bullosa simplex, Dowling‐Meara type. A report of two cases with different types of tonofilament clumping
Two cases ofthe Dowling‐Meara type of epidermolysis bullosa simplex (EBS) are described. Both had severe blistering at birth… 
1985
1985
Proteases are responsible for blister formation in recessive dystrophic epidermolysis bullosa and epidermolysis bullosa simplex
The specific factors which induce blister formation in recessive dystrophic epidermolysis bullosa (RDEB) and epidermolysis… 
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