| 1 | 1871109 | Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. | Proc Natl Acad Sci U S A | 1991 Aug 15 |
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| 2 | 7738360 | Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. | J Invest Dermatol | 1995 May |
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| 3 | 7861014 | A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. | J Invest Dermatol | 1995 Mar |
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| 4 | 7963683 | Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. | J Invest Dermatol | 1994 Nov |
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| 5 | 8088784 | Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. | Genomics | 1994 May 1 |
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| 6 | 8170945 | Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen. | Proc Natl Acad Sci U S A | 1994 Apr 26 |
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| 7 | 8618021 | Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene. | J Invest Dermatol | 1996 Apr |
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| 8 | 8644729 | Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. | Am J Hum Genet | 1996 Apr |
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| 9 | 8644730 | Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. | Am J Hum Genet | 1996 Apr |
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| 10 | 8752681 | Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene. | J Invest Dermatol | 1996 Jun |
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| 11 | 9008239 | Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. | J Invest Dermatol | 1997 Feb |
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| 12 | 9182828 | A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. | J Invest Dermatol | 1997 Jun |
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| 13 | 9215684 | Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. | Hum Mol Genet | 1997 Jul |
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| 14 | 9347800 | Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic. | J Invest Dermatol | 1997 Nov |
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| 15 | 9412818 | Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary. | Exp Dermatol | 1997 Dec |
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| 16 | 9582342 | Smad-dependent transcriptional activation of human type VII collagen gene (COL7A1) promoter by transforming growth factor-beta. | J Biol Chem | 1998 May 22 |
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| 17 | 9666834 | Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa. | Br J Dermatol | 1998 May |
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| 18 | 9668111 | Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering. | J Biol Chem | 1998 Jul 24 |
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| 19 | 9843964 | SMAD3/4-dependent transcriptional activation of the human type VII collagen gene (COL7A1) promoter by transforming growth factor beta. | Proc Natl Acad Sci U S A | 1998 Dec 8 |
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| 20 | 9856843 | Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. | J Invest Dermatol | 1998 Dec |
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| 21 | 9856844 | Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. | J Invest Dermatol | 1998 Dec |
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| 22 | 9892921 | A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa. | Br J Dermatol | 1998 Oct |
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| 23 | 10232406 | Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? | Exp Dermatol | 1999 Apr |
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| 24 | 10232408 | Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study. | Exp Dermatol | 1999 Apr |
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| 25 | 10233777 | Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1). | J Invest Dermatol | 1999 May |
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| 26 | 10383749 | Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. | J Invest Dermatol | 1999 Jun |
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| 27 | 10469344 | Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype. | J Invest Dermatol | 1999 Sep |
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| 28 | 10504458 | Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. | J Invest Dermatol | 1999 Oct |
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| 29 | 10583163 | Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing. | Br J Dermatol | 1999 Nov |
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| 30 | 10620140 | Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa. | J Invest Dermatol | 2000 Jan |
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| 31 | 10836608 | A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. | Arch Dermatol Res | 2000 Apr |
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| 32 | 11142768 | Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. | Arch Dermatol Res | 2000 Oct |
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| 33 | 11167698 | Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets. | Br J Dermatol | 2001 Jan |
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| 34 | 11168577 | Downregulation of human type VII collagen (COL7A1) promoter activity by dexamethasone. Identification of a glucocorticoid receptor binding region. | Exp Dermatol | 2001 Feb |
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| 35 | 11260188 | Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy. | Clin Exp Dermatol | 2001 Jan |
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| 36 | 11260189 | Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1. | Clin Exp Dermatol | 2001 Jan |
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| 37 | 11843659 | Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. | Arch Dermatol | 2002 Feb |
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| 38 | 12823310 | A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa. | Clin Exp Dermatol | 2003 Jul |
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| 39 | 14616374 | Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa. | Br J Dermatol | 2003 Oct |
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| 40 | 14643524 | Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa. | J Dermatol Sci | 2003 Dec |
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| 41 | 15113589 | The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. | J Dermatol Sci | 2004 May |
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| 42 | 15115517 | A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. | Clin Exp Dermatol | 2004 May |
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| 43 | 16189623 | Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa. | J Hum Genet | 2005 |
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| 44 | 16225626 | Transient bullous dermolysis of the newborn in three generations. | Br J Dermatol | 2005 Nov |
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| 45 | 16557343 | COL7A1 mutation G2037E causes epidermal retention of type VII collagen. | J Hum Genet | 2006 |
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| 46 | 16923137 | Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1). | J Dermatol | 2006 Aug |
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| 47 | 16965438 | Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance. | Br J Dermatol | 2006 Oct |
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| 48 | 17106611 | Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene. | Acta Derm Venereol | 2006 |
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| 49 | 17229600 | A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family. | Eur J Dermatol | 2006 Nov-Dec |
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| 50 | 17425959 | Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. | J Dermatol Sci | 2007 Jun |
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