Literature DB >> 2699510

Detection of new mutation disease in man and mouse.

M Grompe1, R A Gibbs, J S Chamberlain, C T Caskey.   

Abstract

Recent developments in molecular biology technology have greatly facilitated the methods for detection of mutations responsible for genetic disorders in both humans and animals. In this article we review some of these new methods and present a diagnostic algorithm that facilitates the routine and rapid diagnosis of any genetic disorder for which the defective gene has been isolated.

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Year:  1989        PMID: 2699510

Source DB:  PubMed          Journal:  Mol Biol Med        ISSN: 0735-1313


  3 in total

1.  The polymerase chain reaction: An overview and development of diagnostic PCR protocols at the LCDC.

Authors: 
Journal:  Can J Infect Dis       Date:  1991

2.  Differential termination of primer extension: a novel, quantifiable method for detection of point mutations.

Authors:  D J Picketts; C Cameron; S A Taylor; K V Deugau; D P Lillicrap
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

3.  Efficient detection of point mutations on color-coded strands of target DNA.

Authors:  E Verpy; M Biasotto; T Meo; M Tosi
Journal:  Proc Natl Acad Sci U S A       Date:  1994-03-01       Impact factor: 11.205

  3 in total

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