Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa
Open Access
- 1 August 1997
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 109 (2) , 246-249
- https://doi.org/10.1111/1523-1747.ep12319792
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.Journal of Medical Genetics, 1995
- DNA-Based Prenatal Diagnosis of Generalized Recessive Dystrophic Epidermolysis Bullosa in Six Pregnancies at Risk for RecurrenceJournal of Investigative Dermatology, 1995
- A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosaHuman Molecular Genetics, 1994
- Structural Organization of the Human Type VII Collagen Gene (COL7A1), Composed of More Exons Than Any Previously Characterized GeneGenomics, 1994
- Type VII Collagen, Anchoring Fibrils, and Epidermolysis BullosaJournal of Investigative Dermatology, 1993
- Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environmentHuman Genetics, 1991
- The CpG dinucleotide and human genetic diseaseHuman Genetics, 1988
- Type VII collagen forms an extended network of anchoring fibrils.The Journal of cell biology, 1987
- Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosisBritish Journal of Dermatology, 1986
- Evaluation of Anchoring Fibrils and Other Components of the Dermal-Epidermal Junction in Dystrophic Epidermolysis Bullosa by a Quantitative Ultrastructural TechniqueJournal of Investigative Dermatology, 1985