title: In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.
authors.affiliation: Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA. jouni.uitto@jefferson.edu
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
mesh_terms: D019943:Amino Acid Substitution; D024143:Collagen Type VII / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005998:Glycine; D040941:Heredity; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011487:Protein Conformation; D012720:Severity of Illness Index; D012867:Skin / Q000473:pathology; D013329:Structure-Activity Relationship
chemical_list: D024143:Collagen Type VII; D005998:Glycine