Single Nucleotide Primer Extension to Detect Genetic Diseases: Experimental Application to Hemophilia B (Factor IX) and Cystic Fibrosis Genes - Kuppuswamy, Mohan N.; Hoffman, Joseph W.; Kasper, Carol K.; Spitzer, Silvia G.; Groce, Stephanie L.; Bajaj, S. Paul (Proceedings of the National Academy of Sciences - PNAS, 1991)
Keywords: 550601 - Medicine- Unsealed Radionuclides in Diagnostics; Alleles; AUTORADIOGRAPHY; Base Sequence; Biological and medical sciences; BLOOD COAGULATION FACTORS; Chromosomes; COAGULANTS; coagulation factor IX; cystic fibrosis; Cystic Fibrosis - genetics; DIAGNOSIS; DISEASES; DNA; DNA POLYMERASES; DRUGS; ELECTROPHORESIS; ENZYMES; Exons; Factor IX - genetics; Female; FIBROSIS; Gels; GENE AMPLIFICATION; GENE MUTATIONS; genes; Genetic Carrier Screening; Genetic diseases; Genetic mutation; Genotype; Genotypes; Haplotypes; HEMATOLOGIC AGENTS; Hematologic and hematopoietic diseases; HEMIC DISEASES; HEMOPHILIA; Hemophilia A - genetics; Hemophilia B; HEREDITARY DISEASES; Humans; Male; Medical sciences; Molecular Sequence Data; Mutation; MUTATIONS; Nucleotides; NUCLEOTIDYLTRANSFERASES; ORGANIC COMPOUNDS; PATHOLOGICAL CHANGES; Pedigree; PHOSPHORUS-GROUP TRANSFERASES; Platelet diseases and coagulopathies; Polymerase Chain Reaction; POLYMERASES; Polymorphism, Restriction Fragment Length; PROTEINS; RADIOLOGY AND NUCLEAR MEDICINE; RFLPS; TRANSFERASES; Human; Primer extension technique; DNA polymerase; Respiratory disease; Family study; Hemophilia B; Hemopathy; Method; Genetic disease; Gene amplification; Mucoviscidosis; Restriction fragment length polymorphism; Gene; Digestive diseases; Mutation; Detection; Coagulopathy; Pancreatic disease