Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene (Q40511466)

21 September 2017

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title

Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene (English)

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21 September 2017

main subject

epidermolysis bullosa

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J Uitto

1

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21 September 2017

A M Christiano

series ordinal

2

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21 September 2017

publication date

1 January 1994

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Archives of Dermatological Research

21 September 2017

published in

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21 September 2017

volume

287

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21 September 2017

issue

1

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21 September 2017

page(s)

16-22

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https://scigraph.springernature.com/pub.10.1007/bf00370713

21 September 2017

exact match

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cites work

DNA-based prenatal diagnosis of heritable skin diseases

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12 December 2020

The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor

1 reference

12 December 2020

Type VII collagen gene expression by cultured human cells and in fetal skin. Abundant mRNA and protein levels in epidermal keratinocytes

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12 December 2020

Human type VII collagen: cDNA cloning and chromosomal mapping of the gene

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12 December 2020

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils

1 reference

12 December 2020

Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen

1 reference

12 December 2020

Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus

1 reference

12 December 2020

Polymorphism of the human genome: markers for genetic linkage analyses in heritable diseases of the skin

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12 December 2020

Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix

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12 December 2020

PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21.1

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12 December 2020

Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases

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12 December 2020

Dystrophic forms of epidermolysis bullosa

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12 December 2020

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype

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12 December 2020

Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities

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12 December 2020

Type VII collagen, anchoring fibrils, and epidermolysis bullosa

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12 December 2020

Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa

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12 December 2020

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

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12 December 2020

Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia

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12 December 2020

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa

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12 December 2020

Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression

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12 December 2020

Mutations in collagen genes: causes of rare and some common diseases in humans

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12 December 2020

The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene

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12 December 2020

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases

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12 December 2020

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

1 reference

12 December 2020

Collagens and their abnormalities in a wide spectrum of diseases

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12 December 2020

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

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12 December 2020

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa

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12 December 2020

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

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12 December 2020

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa

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12 December 2020

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

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12 December 2020

Epithelial-mesenchymal interactions enhance expression of collagen VII in vitro

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12 December 2020

Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique

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12 December 2020

Molecular biology and pathology of type VII collagen

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12 December 2020

Keratinocyte gene therapy

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12 December 2020

Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms

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12 December 2020

Identifiers

DOI

10.1007/BF00370713

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21 September 2017

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