scholarly article | Q13442814 |
P356 | DOI | 10.1093/HMG/2.3.273 |
P698 | PubMed publication ID | 8499916 |
P2093 | author name string | D S Greenspan | |
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 273-8 | |
P577 | publication date | 1993-03-01 | |
P1433 | published in | Human Molecular Genetics | Q2720965 |
P1476 | title | The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene | |
P478 | volume | 2 |
Q28270168 | A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa |
Q41313546 | Biosynthesis of bikunin proteins in the human carcinoma cell line HepG2 and in primary human hepatocytes. Polypeptide assembly by glycosaminoglycan |
Q35249597 | Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation |
Q52561793 | Distribution of basement membrane anchoring molecules in normal and transformed endometrium: altered expression of laminin gamma2 chain and collagen type XVII in endometrial adenocarcinomas. |
Q40872692 | Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases |
Q24312098 | Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen |
Q34140802 | Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth factor-beta |
Q40392062 | Epidermolysis Bullosa: Pathogenetic Pathways from Mutations to Symptoms |
Q38078021 | Epidermolysis bullosa acquisita |
Q40399909 | Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology |
Q35881950 | Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. |
Q36382726 | Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain |
Q34003260 | Lineage, development and morphogenesis of cerebellar interneurons |
Q40511466 | Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene |
Q48014553 | Molecular cloning and characterization of a cDNA encoding canine type VII collagen non-collagenous (NC1) domain, the target antigen of autoimmune disease epidermolysis bullosa acquisita (EBA). |
Q28284115 | Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa |
Q24562156 | Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa |
Q33589020 | Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa |
Q35889613 | Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa |
Q43616075 | Serum levels of anti-type VII collagen antibodies detected by enzyme-linked immunosorbent assay in patients with epidermolysis bullosa acquisita are correlated with the severity of skin lesions. |
Q32052839 | Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering |
Q42514770 | Structural proteins of the dermal-epidermal junction targeted by autoantibodies in pemphigoid diseases. |
Q40817995 | The carboxyl terminus of type VII collagen mediates antiparallel dimer formation and constitutes a new antigenic epitope for epidermolysis Bullosa acquisita autoantibodies |
Q37640771 | Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa |
Search more.