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Quoted phrase not found in phrase index: "Epidermolysis bullosa simplex, Ogna type"
Page 1
The many faces of plectin and plectinopathies: pathology and mechanisms.
Acta Neuropathol. 2013 Jan;125(1):77-93. doi: 10.1007/s00401-012-1026-0. Epub 2012 Aug 3.
Acta Neuropathol. 2013.
PMID: 22864774
Review.
Mutations in the human plectin gene result in multiple diseases manifesting with muscular dystrophy, skin blistering, and signs of neuropathy. The most common disease caused by plectin deficiency is epidermolysis bullosa simplex (EBS)-MD, a rare autosomal-rec …
Mutations in the human plectin gene result in multiple diseases manifesting with muscular dystrophy, skin blistering, and signs of neuropath …
Genetic linkage analysis of epidermolysis bullosa simplex, Kobner type.
Mulley JC, Nicholls CM, Propert DN, Turner T, Sutherland GR.
Mulley JC, et al.
Am J Med Genet. 1984 Nov;19(3):573-7. doi: 10.1002/ajmg.1320190320.
Am J Med Genet. 1984.
PMID: 6507503
Genetic linkage relationships between a range of marker loci and the locus for epidermolysis bullosa simplex (EBS), Kobner type, were examined in a single kindred. ...A lod score of 1.8 was found at theta = 0.2. This value falls to 1.5 at theta …
Genetic linkage relationships between a range of marker loci and the locus for epidermolysis bullosa simplex (EBS), Kob …
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Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Pfendner E, Rouan F, Uitto J.
Pfendner E, et al.
Exp Dermatol. 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x.
Exp Dermatol. 2005.
PMID: 15810881
Review.
Mutations in the plectin gene (PLEC1) result in fragility of skin, demonstrating blister formation at the level of hemidesmosomes. These blistering disorders belong to the spectrum of epidermolysis bullosa (EB) phenotypes, and three distinct variants because of plec …
Mutations in the plectin gene (PLEC1) result in fragility of skin, demonstrating blister formation at the level of hemidesmosomes. These bli …
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