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- catalog abstract "The study of how the effects of different mutations - the genotype of the individual - are modified by other genetic factors and by the environment to produce variable clinical symptoms - the phenotype - is one of the fastest growing areas of human molecular genetics. From Genotype to Phenotype provides a unique review of the mechanisms of interaction between genotype and phenotype, for both common and rare genetic disorders. This book will provide readers with a detailed understanding of common human phenotypes, which will improve disease diagnosis and help determine specific therapeutic measures for the future. Books in the Human Molecular Genetics series are important review volumes covering recent advances in the field for all human molecular geneticists, genetic counsellors and clinicians.".
- catalog contributor b6789342.
- catalog contributor b6789343.
- catalog created "1994.".
- catalog date "1994".
- catalog date "1994.".
- catalog dateCopyrighted "1994.".
- catalog description "Includes bibliographical references and index.".
- catalog description "Mutations and human disease / Susan Malcolm -- Cystic fibrosis / Pier Franco Pignatti -- Mutations in type I and type III collagen genes / Raymond Dalgleish -- Genotype-phenotype correlation in Gaucher disease / M. Horowitz and A. Zimran -- Familial hypercholesterolaemia / Anne K. Soutar -- The molecular basis of Charcot-Marie-Tooth disease / Frank Baas [and others] -- The genetics of Wilms' tumour / John K. Cowell -- How a dynamic mutation manifests in myotonic dystrophy / Catherine L. Winchester and Keith J. Johnson -- Length variation in fragile X / Mark C. Hirst -- Somatic mosaicism, chimerism and X inactivation / Andrew O.M. Wilkie -- Mitochondrial DNA-associated disease / Simon R. Hammans -- Diabetes : from phenotype to genotype and back to phenotype / G.A. Hitman, M. Fennessy, and K. Metcalfe -- Coronary artery disease and the variability gene concept : the effect of smoking on plasma levels of high density lipoprotein and fibrinogen / Steve E. Humphries -- Genetic predisposition to dyslipidaemia and accelerated atherosclerosis : environmental interactions and modification by gene therapy / E. Boerwinkle and L. Chan.".
- catalog description "The study of how the effects of different mutations - the genotype of the individual - are modified by other genetic factors and by the environment to produce variable clinical symptoms - the phenotype - is one of the fastest growing areas of human molecular genetics. From Genotype to Phenotype provides a unique review of the mechanisms of interaction between genotype and phenotype, for both common and rare genetic disorders.".
- catalog description "This book will provide readers with a detailed understanding of common human phenotypes, which will improve disease diagnosis and help determine specific therapeutic measures for the future. Books in the Human Molecular Genetics series are important review volumes covering recent advances in the field for all human molecular geneticists, genetic counsellors and clinicians.".
- catalog extent "xx, 290 p. :".
- catalog hasFormat "From genotype to phenotype.".
- catalog identifier "1872748627 :".
- catalog isFormatOf "From genotype to phenotype.".
- catalog isPartOf "Human molecular genetics series".
- catalog issued "1994".
- catalog issued "1994.".
- catalog language "eng".
- catalog publisher "Oxford : BIOS Scientific ; Herndon, VA : USA and Canada distributor, Books International,".
- catalog relation "From genotype to phenotype.".
- catalog subject "1994 H-526".
- catalog subject "616.042 20".
- catalog subject "Genetic Diseases, Inborn genetics.".
- catalog subject "Genetic disorders.".
- catalog subject "Human genetics Variation.".
- catalog subject "Humans Genetic disorders".
- catalog subject "Mutation.".
- catalog subject "Phenotype.".
- catalog subject "QZ 50 F931 1994".
- catalog subject "RB155.5 .F76 1994".
- catalog tableOfContents "Mutations and human disease / Susan Malcolm -- Cystic fibrosis / Pier Franco Pignatti -- Mutations in type I and type III collagen genes / Raymond Dalgleish -- Genotype-phenotype correlation in Gaucher disease / M. Horowitz and A. Zimran -- Familial hypercholesterolaemia / Anne K. Soutar -- The molecular basis of Charcot-Marie-Tooth disease / Frank Baas [and others] -- The genetics of Wilms' tumour / John K. Cowell -- How a dynamic mutation manifests in myotonic dystrophy / Catherine L. Winchester and Keith J. Johnson -- Length variation in fragile X / Mark C. Hirst -- Somatic mosaicism, chimerism and X inactivation / Andrew O.M. Wilkie -- Mitochondrial DNA-associated disease / Simon R. Hammans -- Diabetes : from phenotype to genotype and back to phenotype / G.A. Hitman, M. Fennessy, and K. Metcalfe -- Coronary artery disease and the variability gene concept : the effect of smoking on plasma levels of high density lipoprotein and fibrinogen / Steve E. Humphries -- Genetic predisposition to dyslipidaemia and accelerated atherosclerosis : environmental interactions and modification by gene therapy / E. Boerwinkle and L. Chan.".
- catalog title "From genotype to phenotype / [edited by] Steve E. Humphries, Sue Malcolm.".
- catalog type "text".