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Family polymorphism

Lehnart, S. E., Wehrens, X. H., Laitinen, P. J., Reiken, S. R., Deng, S. X., Cheng, Z., Landry, D. W., Kontula, K., Swan, H., and Marks, A. R. (2004). Sudden Death in Familial Polymorphic Ventricular Tachycardia Associated with Calcium Release Channel (Ryanodine Receptor) Leak. Circulation 109(25) 3208-14. [Pg.313]

Lehnart, S.E., Wehrens, X.H., Laitinen, P.J., et al., 2004, Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak. Circulation, 109(25), pp 3208-14. [Pg.535]

There are nine known human isozymes within the UGT1 family and six within the UGT2 family. Polymorphic forms of some of these enzymes are associated with diseases and significant adverse effects to some drugs. [Pg.139]

V. V. Murashov, I. M. Svishchev. Quartz family of silica polymorphs comparative simulation study of quartz, moganite, and orthorhombic silica, and their phase transformations. Phys Rev B 57 5639, 1998. [Pg.926]

Since the discovery of the double hehcal structure of deoxyribonucleic acid (DNA) by Watson and Crick in 1953 [1], there has been considerable belief that the canonical right-handed B-DNA may adopt a wide range of different conformations depending on the nucleotide sequences and environmental conditions. This speculation turned out to be a reahty [2-10]. hi hving systems, the conformational flexibility of DNA resides primarily in the polymorphs of the DNA double hehx (including right-handed and left-handed double hehcal DNA) and occurs under various environmental conditions [4j. The main family of DNA forms identified, based on circular dichroic and... [Pg.156]

In the previous paragraph, it has been stated that minerals have the same structure but different compositions (phenomenon of isomorphism of minerals) while some minerals have the same composition but different structures (phenomenon of polymorphism of minerals). Mineral composition and structure are both important in studying and classifying minerals. The major class of minerals - based on composition and structure - include elements, sulfides, halides, carbonates, sulfates, oxides, phosphates, and silicates. The silicate class is especially important, because silicon makes up 95% of the minerals, by volume, in the Earth s crust. Mineral classes are divided into families on the basis of the chemicals in each mineral. Families, in turn, are made of groups of minerals that have a similar structure. Groups are further divided into species. [Pg.54]

Spurlock, G., Helis, A., Holmas, P. etal. (1998). A family based association study of T 102C polymorphism in 5HT2A and schizophrenia plus identification of new polymorphisms in the promoter. Mol. Psychiatry, 3, 42-9. [Pg.85]

Hereditary deficiency of phosphoglycerate kinase (PGK) is associated with hereditary hemolytic anemia and often with central nervous system dysfunction and/or myopathy. The first case, reported by Kraus et al. (K24), is a heterozygous female, and the results are not so clear. The second family, reported by Valentine et al. (V3), is a large Chinese family, whose pedigree study indicates that PGK deficiency is compatible with X-linked inheritance. To date, 22 families have been reported (04, T25, Y3). Nine of these have manifested both symptoms five have shown only hemolysis seven have shown the central nervous system dysfunction and/or myopathy but without hemolysis and one case, PGK Munchen, is without clinical symptoms (F5). PGK II is an electrophoretic variant found in New Guinea populations (Y2). Red blood cell enzyme activity, specific activity, and the kinetic properties of this polymorphic variant are normal. [Pg.21]


See other pages where Family polymorphism is mentioned: [Pg.480]    [Pg.481]    [Pg.313]    [Pg.377]    [Pg.378]    [Pg.437]    [Pg.438]    [Pg.27]    [Pg.1464]    [Pg.192]    [Pg.480]    [Pg.481]    [Pg.313]    [Pg.377]    [Pg.378]    [Pg.437]    [Pg.438]    [Pg.27]    [Pg.1464]    [Pg.192]    [Pg.282]    [Pg.378]    [Pg.227]    [Pg.194]    [Pg.297]    [Pg.114]    [Pg.369]    [Pg.923]    [Pg.1015]    [Pg.326]    [Pg.350]    [Pg.93]    [Pg.322]    [Pg.131]    [Pg.54]    [Pg.54]    [Pg.355]    [Pg.201]    [Pg.1359]    [Pg.5]    [Pg.43]    [Pg.72]    [Pg.9]    [Pg.65]    [Pg.174]    [Pg.4]    [Pg.59]    [Pg.63]    [Pg.64]    [Pg.197]    [Pg.198]    [Pg.199]    [Pg.267]   
See also in sourсe #XX -- [ Pg.182 ]




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