Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
about
Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa.Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Mitochondrial dysfunction: a neglected component of skin diseases.Blistering disease: insight from the hemidesmosome and other components of the dermal-epidermal junction.One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.Congenital dystrophic epidermolysis bullosa (DEB) in Sprague Dawley rats: a case series.Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement.
P2860
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P2860
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年學術文章
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name
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
@en
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
@nl
type
label
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
@en
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
@nl
prefLabel
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
@en
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
@nl
P2093
P2860
P356
P1476
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
@en
P2093
A Charlesworth
A Diociaiuti
A M Sankari-Ho
A Valhquist
B Le Fiblec
C Chiaverini
E Wierzbicka
J Chevrant-Breton
M El Hachem
P2860
P304
P356
10.1111/BJD.12202
P407
P577
2013-04-01T00:00:00Z