Genetic Basis of Bart's Syndrome: A glycine Substitution Mutation in the Type VII Collagen Gene

This publication has 15 references indexed in Scilit:

• Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen
  Human Molecular Genetics, 1995
• Bart's Syndrome
  Archives of Dermatology, 1995
• 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
• 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
• Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
  Proceedings of the National Academy of Sciences, 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
• Dystrophic epidermolysis bullosa presenting with congenital localized absence of skin: report of four cases
  British Journal of Dermatology, 1983
• A Mechanobullous Disease of the Newborn
  Archives of Dermatology, 1978
• Epidermolysis Bullosa and Congenital Localized Absence of Skin
  Archives of Dermatology, 1970