Novel andDe Novo Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling

This publication has 17 references indexed in Scilit:

• Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary
  Experimental Dermatology, 1997
• Novel Glycine Substitution Mutations in COL7A1 Reveal that the Pasini and Cockayne–Touraine Variants of Dominant Dystrophic Epidermolysis Bullosa Are Allelic
  Journal of Investigative Dermatology, 1997
• Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa
  American Journal of Human Genetics, 1997
• Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa
  Human Mutation, 1997
• Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
  Human Mutation, 1997
• A Glycine-to-Arginine Substitution in the Triple-Helical Domain of Type VII Collagen in a Family with Dominant Dystrophic Epidermolysis Bullosa
  Journal of Investigative Dermatology, 1995
• Structural Organization of the Human Type VII Collagen Gene (COL7A1), Composed of More Exons Than Any Previously Characterized Gene
  Genomics, 1994
• Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.
  Proceedings of the National Academy of Sciences, 1993
• Human type VII collagen: cDNA cloning and chromosomal mapping of the gene.
  Proceedings of the National Academy of Sciences, 1991
• The CpG dinucleotide and human genetic disease
  Human Genetics, 1988