Article: Rapid, Simultaneous Genotyping of 10 Southeast Asian Glucose-6-Phosphate Dehydrogenase Deficiency-Causing Mutations and a Silent Polymorphism by Multiplex Primer Extension/Denaturing HPLC Assay

Article: Disease-causing mutations in cardiac troponin T: ...
Biophysical Journal;  November 1, 2001 ;     700+ words ... ... accounting for - 15% of documented FHC-causing mutations (Thierfelder et al., 1994; Hernandez ... Nine of the twelve loci of FHC-causing mutations are located in this region, the ... Despite the intensive research on FHC-causing mutations of TnT, the disease mechanisms ...

Article: Spectrum of disease-causing mutations in protein ...
BMC Structural Biology;  August 29, 2007 ;     700+ words ... ... statistical analyses have been performed for disease-causing mutations, for non-synonymous SNPs (nsSNPs) [9, 11, 12 ... the occurrence, location and distribution of disease-causing mutations in secondary structures. The study is based on statistics ...

Article: Disease-Causing Mutations in Proteins: Structural ...
Biophysical Journal;  December 15, 2006 ;     700+ words ... ... this communication, we report an in-depth structure-based analysis of the human CYP1b1 protein carrying disease-causing mutations that are discovered in patients suffering from primary congenital glaucoma (PCG). The "wild-type" and the PCG mutant ...

Article: The molecular basis for HCM-causing mutations in ...
Biotech Week;  September 29, 2004 ;     700+ words ... ... which consequently renders the protein less stable and more susceptible to proteolysis." "The molecular basis for HCM-causing mutations in the MLP gene might therefore be an alteration in the equilibrium of interactions of the ternary complex MLP-N-RAP ...

Article: Weizmann team discovers molecular 'policeman' which keeps ...
Jerusalem Post;  May 4, 2006 ;     700+ words ... ... Jerusalem Post 05-04-2006 Headline: Weizmann team discovers molecular 'policeman' which keeps cancer-causing mutations in check Byline: JUDY SIEGEL Edition; Daily Section: News Page: 04 Thursday, May 4, 2006 -- Researchers ...

Article: Genizon BioSciences acquires assets from Global Genomics to ...
PR Newswire;  May 11, 2005 ;     700+ words ... ... Global Genomics provide great potential for Genizon to reduce from months to weeks the time required to identify disease causing mutations at gene locations identified in our whole genome association studies. We expect this acquisition will produce substantial ...

Article: Genizon Biosciences Acquires Assets from Global Genomics to ...
PR Newswire Europe;  May 11, 2005 ;     700+ words ... ... Global Genomics provide great potential for Genizon to reduce from months to weeks the time required to identify disease causing mutations at gene locations identified in our whole genome association studies. We expect this acquisition will produce substantial ...