| P50 | author | Marina Colombi | Q55344391 |
| P2093 | author name string | Barlati S | |
| | Gardella R | |
| | Marini D | |
| | Zoppi N | |
| | Belletti L | |
| P2860 | cites work | Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa | Q24562156 |
| | A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia | Q24625493 |
| | RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression | Q24633499 |
| | A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria | Q24635350 |
| | Type VII collagen forms an extended network of anchoring fibrils | Q24680222 |
| | Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction | Q25938986 |
| | 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 |
| | Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms | Q28246150 |
| | 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 |
| | Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus | Q28306597 |
| | The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences | Q29619441 |
| | Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression | Q34362040 |
| | Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa | Q35196848 |
| | 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 |
| | Mechanisms for selecting 5' splice sites in mammalian pre-mRNA splicing | Q40750224 |
| | Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII. | Q48284876 |
| | Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa | Q68139493 |
| | Aberrant splicing of the COL4A5 gene in patients with Alport syndrome | Q71996165 |
| | Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa | Q72195816 |
| | Construction of a novel database containing aberrant splicing mutations of mammalian genes | Q72375551 |
| | A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa | Q72449368 |
| | 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 | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | patient | Q181600 |
| | recessive dystrophic epidermolysis bullosa | Q7302398 |
| P304 | page(s) | 292-300 | |
| P577 | publication date | 1996-08-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | 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 | |
| P478 | volume | 59 | |