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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

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8 relations
COL15A1 geneCell AdhesionCell MovementCollagen Alpha-1(VII) Chain

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Antisense oligonnucleotide treatment of COL7A1 causes non-specific splice modifications
Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited disease caused by bi‐allelic mutations in the COL7A1, which… 
2017
2017
A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa.
BACKGROUND Epidermolysis bullosa pruriginosa (DEB-Pr) is a rare disease caused by mutations in the collagen, type VII, alpha 1… 
2015
2015
Crispr/Cas9-based COL7A1 editing for recessive dystrophic epidermolysis bullosa
2013
2013
Termination Codons on Both Alleles of the Type VIl Collagen Gene ( COL 7 A 1 ) in Three Brothers with Recessive Dystrophic Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the… 
2012
2012
An Incompletely Penetrant Col7a1 Mutation Causes Dystrophic Epidermolysis Bullosa And Epidermolysis Bullosa Pruriginosa
An incompletely penetrant COL7A1 mutation causes dystrophic epidermolysis bullosa and epidermolysis bullosa pruriginosa… 
2012
2012
Novel and recurrent COL 7 A 1 mutation in a Polish population Dystrophic Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa (DEB) is a rare bullous genodermatosis caused by mutations in COL7A1, which encodes collagen… 
2007
2007
COL7A1 mutation analysis in Korean patients with dystrophic epidermolysis bullosa
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Review
2002
Review
2002
Collagen type VII (COL7A1) mutation survey and genotype-phenotype correlation in Italian patients affected by dystrophic epidermolysis bullosa
1995
1995
Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.
Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from… 
1994
1994
A point mutation of the type VII collagen GENF (COL7A1) in two cousins and three unrelated patients with recessive dystrophic epidermolysis bullosa