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

No abstract is available for this paper.

• Publication year

  1993

• Venue

  Nature Genetics

• Publication date

  1993-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/NG1193-287PMID 8275094
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.

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• Molecular cloning and characterization of type VII collagen cDNA.

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• Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

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• Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients

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• Epidermolysis Bullosa

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

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

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• Type VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa

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• Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis

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  1975cited by this paper
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• Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells.

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