Recurrent COL7A1 Mutations in Japanese Patients with Dystrophic Epidermolysis Bullosa: Positional Effects of Premature Termination Codon Mutations on Clinical Severity
Open Access
- 1 June 1999
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 112 (6) , 991-993
- https://doi.org/10.1046/j.1523-1747.1999.00601.x
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
- Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril FormationAmerican Journal of Human Genetics, 1997
- Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosaHuman Mutation, 1997
- Molecular Basis of Recessive Dystrophic Epidermolysis Bullosa: Genotype/Phenotype Correlation in a Case of Moderate Clinical SeverityJournal of Investigative Dermatology, 1996
- Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.Journal of Clinical Investigation, 1995
- Structural Variations in Anchoring Fibrils in Dystrophic Epidermolysis Bullosa: Correlation with Type VII Collagen ExpressionJournal of Investigative Dermatology, 1993
- Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.Journal of Clinical Investigation, 1992
- Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosaJournal of the American Academy of Dermatology, 1991
- Type VII collagen is a major structural component of anchoring fibrils.The Journal of cell biology, 1986