Molecular Basis of the Dystrophic and Junctional Forms of Epidermolysis Bullosa: Mutations in the Type VII Collagen and Kalinin (Laminin 5) Genes.
- 1 November 1994
- journal article
- review article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 103 (s5) , 39S-46S
- https://doi.org/10.1111/1523-1747.ep12398967
Abstract
No abstract availableKeywords
This publication has 39 references indexed in Scilit:
- Structural Organization of the Human Type VII Collagen Gene (COL7A1), Composed of More Exons Than Any Previously Characterized GeneGenomics, 1994
- Premature Termination Codons in the Type VII Collagen Gene (COL7A1) Underlie Severe, Mutilating Recessive Dystrophic Epidermolysis BullosaGenomics, 1994
- Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosaNature Genetics, 1994
- DNA-based prenatal diagnosis of heritable skin diseasesArchives of Dermatology, 1993
- Localization of the human collagen gene COL7A1 to 3p21.3 by fluorescence in situ hybridizationCytogenetic and Genome Research, 1993
- The dermal-epidermal junction of human skin contains a novel laminin variant.The Journal of cell biology, 1992
- Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patientsExperimental Dermatology, 1992
- Molecular genetics of epidermolysis bullosaScience, 1992
- Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.Journal of Clinical Investigation, 1992
- Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosaJournal of the American Academy of Dermatology, 1991