Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
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Laminin 332 in junctional epidermolysis bullosaMolecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa.Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosaMolecular architecture and function of the hemidesmosome.Blistering disease: insight from the hemidesmosome and other components of the dermal-epidermal junction.Therapies for inherited skin fragility disorders.Molecular architecture and function of the hemidesmosome.Hereditary epidermolysis bullosa.Extracellular cleavage of collagen XVII is essential for correct cutaneous basement membrane formation.Late-onset skin fragility in childhood: a case of junctional epidermolysis bullosa of late onset caused by a missense mutation in COL17A1.Amelioration of junctional epidermolysis bullosa due to exon skipping.Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).A case of junctional epidermolysis bullosa with prurigo-like lesions and reduction of collagen XVII and filaggrin.Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.Management of severe epidermolysis bullosa by haematopoietic transplant: principles, perspectives and pitfalls.
P2860
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P2860
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
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2011年學術文章
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2011年學術文章
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name
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
@en
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
@nl
type
label
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
@en
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
@nl
prefLabel
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
@en
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
@nl
P2093
P50
P356
P1476
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa
@en
P2093
Cristina Has
Hauke Schumann
Jürgen Kohlhase
P304
P356
10.1136/JMG.2010.086751
P407
P577
2011-02-28T00:00:00Z