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COL7A1 gene

Known as: LC collagen, COL7A1, collagen VII, alpha-1 polypeptide 
This gene is involved in the organization of the epithelial basement membrane.
National Institutes of Health

Papers overview

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2017
2017
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic… Expand
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Highly Cited
2009
Highly Cited
2009
BACKGROUND Dystrophic epidermolysis bullosa (DEB) is a severe genetic skin blistering disorder caused by mutations in the gene… Expand
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Review
2008
Review
2008
Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both… Expand
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Highly Cited
1999
Highly Cited
1999
The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations… Expand
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Highly Cited
1998
Highly Cited
1998
The human type VII collagen gene (COL7A1) recently has been identified as an immediate-early response gene for transforming… Expand
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1997
1997
Epidermolysis bullosa (EB), a group of heritable blistering diseases characterized by tissue separation within the cutaneous… Expand
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Highly Cited
1997
Highly Cited
1997
We have characterized 21 mutations in the type VII collagen gene (COL7A1) encoding the anchoring fibrils, 18 of which were not… Expand
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1997
1997
The diagnostic hallmark of the dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering skin diseases, is… Expand
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Highly Cited
1994
Highly Cited
1994
The human type VII collagen (COL7A1) gene is the locus for mutations in at least some cases of dystrophic epidermolysis bullosa… Expand
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1994
1994
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the… Expand
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