title: Molecular studies of human genetic disease.
abstract: A wide variety of techniques are available for detecting disease-causing mutations within human genes; this report provides a brief review of such procedures. Good communication and exchange of materials between the clinical genetics field and the Human Genome Initiative will benefit both.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: B J
authors.initials: BJ
authors.lastname: Rossiter
authors.forename: C T
authors.initials: CT
authors.lastname: Caskey
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D011088:DNA Ligases; D004262:DNA Restriction Enzymes; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D008040:Genetic Linkage; D016045:Human Genome Project; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D004262:DNA Restriction Enzymes; D011088:DNA Ligases