Diagnostic assay for Charcot Marie Tooth Disease Type 1B

Details Diagnostic assay for Charcot Marie Tooth Disease Type 1B Diagnostic assay for Charcot Marie Tooth Disease Type 1B

1995-06-07

1998-03-03

Campbell, Eggerton A.

Organic compounds -- part of the class 532-570 series

Organic compounds

Carbohydrates or derivatives

435 6, C07H 2102, C12Q 168

Patent

active

057235937

ABSTRACT:
The present invention provides compositions, methods and kits for the detection of genetic polymorphisms or mutations related to Charcot-Marie-Tooth Disease Type 1B. The polymorphism or mutations generally occur in the protein P0 gene in chromosome 1. Also provided are mutant forms of protein P0 and methods for screening compounds to identify compounds that enhance binding between mutant P0 proteins.

REFERENCES:
patent: 4683195 (1987-07-01), Urden et al.
Hayasaka et al, Biochem. Biophy. Res. Comm 180: 515-518 (1991).

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