Condition: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)


rs1057518706 in COL7A1 gene and Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) PMID 16965329 2006 Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.

PMID 9215684 1997 Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

PMID 7861014 1995 A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.

PMID 9668111 1998 Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

PMID 9856843 1998 Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

PMID 10233777 1999 Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).

PMID 20598510 2010 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

PMID 9740253 1998 Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

PMID 10836608 2000 A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.

PMID 8170945 1994 Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.

PMID 10232408 1999 Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.

PMID 11142768 2000 Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.

PMID 10232407 1999 Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.

PMID 10232406 1999 "Diagnostic dilemma of ""sporadic"" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?"

PMID 10084325 1999 Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

PMID 2653224 1989 Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome.

PMID 11874498 2002 EB simplex superficialis resulting from a mutation in the type VII collagen gene.