| scholarly article | Q13442814 |
| P2093 | author name string | H Ogawa | |
| J Uitto | |||
| D S Greenspan | |||
| A M Christiano | |||
| Y Suga | |||
| P2860 | cites work | DNA sequencing with chain-terminating inhibitors | Q22066207 |
| Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen | Q24312098 | ||
| Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5) | Q24312169 | ||
| Human type VII collagen: cDNA cloning and chromosomal mapping of the gene | Q24563646 | ||
| The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor | Q28208428 | ||
| Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix | Q28235861 | ||
| A new nomenclature for the laminins | Q28238308 | ||
| Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa | Q28243912 | ||
| Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene | Q28248246 | ||
| 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 | Q28269444 | ||
| A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa | Q28270168 | ||
| The complete primary structure for a novel laminin chain, the laminin B1k chain | Q28285891 | ||
| Nonsense mutations in the human beta-globin gene affect mRNA metabolism | Q33562164 | ||
| Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus | Q33594092 | ||
| Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis | Q34213495 | ||
| Type VII collagen, anchoring fibrils, and epidermolysis bullosa | Q34354365 | ||
| Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression | Q34362040 | ||
| Genetic Skin Disorders of Keratin | Q35159068 | ||
| Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa | Q35196848 | ||
| Molecular genetics of epidermolysis bullosa | Q35319422 | ||
| Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases | Q35335841 | ||
| Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils | Q35599586 | ||
| Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene | Q35822369 | ||
| Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa | Q35889613 | ||
| Nonsense mutations in the dihydrofolate reductase gene affect RNA processing | Q36769262 | ||
| Tissue culture of human epidermal keratinocytes: a differentiating model system for gene testing and somatic gene therapy | Q36851670 | ||
| Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry | Q37648655 | ||
| Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome | Q38317023 | ||
| Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation | Q38329827 | ||
| DNA-based prenatal diagnosis of heritable skin diseases | Q40618642 | ||
| Type VII collagen is a major structural component of anchoring fibrils | Q41511070 | ||
| Genetic immunization is a simple method for eliciting an immune response | Q43857336 | ||
| Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds | Q57949122 | ||
| Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa | Q68139493 | ||
| The skipping of constitutive exons in vivo induced by nonsense mutations | Q70554031 | ||
| Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa | Q72195816 | ||
| A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa | Q72691286 | ||
| Nonsense mutations and diminished mRNA levels | Q72896179 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | recessive dystrophic epidermolysis bullosa | Q7302398 |
| P304 | page(s) | 1328-34 | |
| P577 | publication date | 1995-03-01 | |
| P1433 | published in | Journal of Clinical Investigation | Q3186904 |
| P1476 | title | Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa | |
| P478 | volume | 95 |
| Q34310389 | A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle. |
| Q48244290 | A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa |
| Q35249597 | Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation |
| Q51098160 | Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications. |
| Q35881857 | 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 |
| Q24648149 | Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes |
| Q47833722 | Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa |
| Q56387769 | Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in theCOL7Agene |
| Q35202865 | How clinicians add to knowledge of development |
| 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. |
| Q38180485 | Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies |
| Q24309362 | Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1) |
| Q36437677 | Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1) |
| Q35910642 | Progress in epidermolysis bullosa: genetic classification and clinical implications |
| Q41120437 | The molecular basis for inherited bullous diseases |
| Q28485440 | Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa |
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