Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies

European Journal of Human Genetics

Volumn 4, Issue 6, 1996, Pages 329-333

  Nelis, Eva ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

Author keywords

Charcot Marie Tooth; Heteroduplex analysis; MPZ; Mutation detection; Peripheral neuropathy; PMP22; Single strand conformation polymorphism analysis

Indexed keywords

DNA; HETERODUPLEX; MYELIN PROTEIN;

ARTICLE; COMPARATIVE STUDY; DEMYELINATING NEUROPATHY; DNA DETERMINATION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030469351     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472227     Document Type: Article

References (3)

1. Orita M, Suzuki Y, Sekiya T, Hayashi K: Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:874-879.
2. Grompe M: The rapid detection of unknown mutations in nucleic acids. Nature Genet 1993;5:111-117.
3. White MB, Carvalho M, Derse D, O'Brian SJ, Dean M: Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992;12:301-306.